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Biochemistry Flashcards

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7467102812organic compoundscompounds (1 or more atoms bonded together) with at least one Carbon-Hydrogen bond0
7467102813carbohydratesorganic compounds made of one or more sugars. Used primarily for cellular energy.1
7467102814lipids/fatsorganic compounds consisting of long Carbon chains. Mainly used for energy storage; also cushion & insulation and also make up the cell membrane.2
7467102815proteinsorganic compounds made of many amino acids. Mainly used as enzymes, and building blocks of structures.3
7467102816nucleic acidsorganic compounds made of nucleotides. Mainly used to store and transmit information in cells. (DNA & RNA)4
7467102817steroidslipid made of 4 carbon rings. used as messengers between cells.5
7467102818hydrolysisBreaking down complex molecules by the chemical addition of water6
7467102819dehydration synthesisprocess in which water is removed to join two small molecules7
7467102820glucose, fructose, & galactosesingle sugars (simple carbs)8
7467102821glycogenanimal polysaccharide-- sugar storage9
7467102822starchplant polysaccharide-- sugar storage10
7467102823cellulose/fiberplant polysaccharide-- makes up cell walls11
7467102824lactose & sucrosedouble sugars (disaccharides/ simple carbs)12
7467102825triglyceridefat tissue and oils in animals (saturated) and plants (unsaturated)13
7467102826phospholipidsfats that make up the cell membrane14
7467102827waxesfats that are used for protection and to prevent water loss15

Biochemistry Flashcards

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7329223037carbohydrate"Compound containing carbon, hydrogen, and oxygen in the approximate ratio of C:2H:O (e.g., sugars, starches, and cellulose)"0
7329223038pHa measure of how acidic/basic water is. The range goes from 0 - 14, with 7 being neutral. pHs of less than 7 indicate acidity, whereas a pH of greater than 7 indicates a base. pH is really a measure of the relative amount of free hydrogen and hydroxyl ions in the water.1
7329223039compoundA pure substance made of two or more elements CHEMICALLY combined.2
7329223040moleculeA neutral group of atoms joined together by covalent bonds; smallest unit of a compound joined together3
7329223041cellBasic unit of life4
7329223042calorieAmount of energy needed to raise temperature 1 gram of water 1 degree C'; A unit of heat used to measure the energy your body uses and the energy it receives from food5
7329223043energyAbility to do work or cause change6
7329223044elementA pure substance made of only one kind of atom7
7329223045phosphate bonda high-energy chemical bond that is especially important between the 2nd and 3rd phosphate groups in an ATP molecule8
7329223046starchA storage polysaccharide in plants consisting entirely of glucose.9
7329223047organicCarbon-containing10
7329223048inorganicDoes not contain carbon; Not formed from living things or the remains of living things11
7329223049synthesisCombining of small molecules or substances into larger, more complex ones; A+B=AB12
7329223050proteinA macromolecule that contains the principal components of organisms: carbon, hydrogen, oxygen, and nitrogen; performs a variety of structural and regulatory functions for cells.13
7329223051energy storagecarbohydrates and lipids14
7329223052structural support15
7329223053dehydration reactionA chemical reaction in which two molecules covalently bond to each other with the removal of a water molecule.16
7329223054biological moleculechemical compounds that provide physical structure and bring about movement, energy use, and other cellular functions in a living organism17
7329223055active siteRegion of an enzyme into which a particular substrate fits.18
7329223056activation energythe minimum amount of energy required to start a chemical reaction19
7329223057saturated fatA lipid made from fatty acids that have no double bonds between carbon atoms; A fat that is solid at room temperature and found in animal fats, lards, and dairy products.20
7329223058unsaturated fatA lipid made from fatty acids that have at least one double bond between carbon atoms; A fat that is liquid at room temperature and found in vegetable oils, nuts, and seeds.21
7329223059fatty acidBuilding Blocks of Lipids; substances produced when fats are digested; simple forms of fat that supply energy fuel for most of the body's cells; unbranched carbon chains that make up most lipids22
7329223060steroidsA type of lipid characterized by a carbon skeleton consisting of four rings with various functional groups attached.23
7329223061exothermic reactionA reaction that releases energy in the form of heat24
7329223062endothermic reactionA reaction that ABSORBS energy in the form of heat25
7329223063fructase-ase suffix Most enzymes end in "-ase" suffix, but not all enzymes. Some enzymes were named prior to the adoption of this process; "ose" turns to "ase" after decomposition reactions; structural -- what gives a macromolecule its shape [chitin]26
7329223064"ose"used in biochemistry to form the names of sugars27
7329223065chemical structureThe way atoms in a compound are bonded it represents the structure of a compound.28
7329223066covalent bondA chemical bond that involves sharing a pair of electrons between atoms in a molecule29
7329223067ionic bondFormed when one or more electrons are transferred from one atom to another30
7329223068polar moleculeMolecule with an unequal distribution of charge, resulting in the molecule having a positive end and a negative end31
7329223069hydrogen bondA type of weak chemical bond formed when the slightly positive hydrogen atom of a polar covalent bond in one molecule is attracted to the slightly negative atom of a polar covalent bond in another molecule.32
7329223070biochemicalThe changing of organic matter into other chemical forms such as fuels.33
7329223071macromoleculeA very large organic molecule composed of many smaller molecules; a molecule containing a very large number of atoms, such as a protein, nucleic acid, or synthetic polymer.34
7329223072catalyst(chemistry) a substance that initiates or accelerates a chemical reaction without itself being affected35
7329223073enzymeA type of protein that speeds up a chemical reaction in a living thing36
7329223074substrateA specific reactant acted upon by an enzyme; reactant of an enzyme-catalyzed reaction37
7329223075polymerA long molecule consisting of many similar or identical monomers linked together.38
7329223076monomersmall chemical unit that makes up a polymer39
7329223077polysaccharideA polymer of thousands of simple sugars formed by dehydration synthesis; Carbohydrates that are made up of more than two monosaccharides40
7329223078disaccharideA double sugar molecule made of two monosaccharides bonded together through dehydration synthesis.41
7329223079monosacchridesingle sugar molecule42
7329223080fructoseA monosaccharide found predominantly in fruit and honey43
7329223081celluloseA large polysaccharide composed of many glucose monomers linked into cable-like fibrils that provide structural support in plant cell walls.44
7329223082lipidEnergy-rich organic compounds, such as fats, oils, and waxes, that are made of carbon, hydrogen, and oxygen.45
7329223083nucleotideA building block of DNA, consisting of a five-carbon sugar covalently bonded to a nitrogenous base and a phosphate group.46
7329223084amino acidBuilding blocks of protein47
7329223085nucleic acid(biochemistry) any of various macromolecules composed of nucleotid chains that are vital constituents of all living cells48
7329223086peptideThe chemical bond that forms between the carboxyl group of one amino acid and the amino group of another amino acid49
7329223087triglycerideComposed of three molecules of fatty acids joined to one molecule of glycerol50
7329223088dehydration synthesisA chemical reaction in which two molecules covalently bond to each other with the removal of a water molecule.51
7329223089glycerolA three-carbon alcohol to which fatty acids are covalently bonded to make fats and oils.52
7329223090phospholipidA molecule that is a constituent of the inner bilayer of biological membranes, having a polar, hydrophilic head and a nonpolar, hydrophobic tail.53
7329223091maltosea 12-carbon sugar that is formed by the union of two glucose units (a disaccharide)54
7329223092cyclicoccurring in cycles; regularly repeated55
7329223093chitina fibrous substance consisting of polysaccharides56
7329223094hydrolysisA chemical reaction that breaks bonds between two molecules by the addition of water; functions in disassembly of polymers to monomers.57
7329223095sucroseA disaccharide made of glucose + fructose; Table sugar58
7329223096glycogenA highly branched polymer of glucose containing thousands of subunits; functions as a compact store of glucose molecules in liver and muscle fibers59
7329223097hexosescarbohydrates with six carbon atoms60
7329223098enzyme activitythe ability of an enzyme to do work and is mainly dependent on substrate concentration61
7329223099enzyme substrate complexA temporary complex formed when an enzyme binds to its substrate molecule(s).62
7329223100polymerizationAn organic reaction in which many small units are joined together to form a long chain63

Biochemistry Flashcards

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7774087189organic moleculeChemical compound that contains carbon and hydrogen0
7774087190CarbohydratesMolecules composed of carbon, hydrogen, and oxygen, and they include sugars and starches.1
7774087191ProteinsA polymer made of amino acids; molecules that contain carbon, hydrogen, oxygen, nitrogen, and sometimes sulfer2
7774087192LipidsNon polar molecules found in fat and cholesterol3
7774087193MonomerEach subunit in the complete molecule4
7774087194PolymerA large unit or macromolecule made of many monomers bonded together5
7774087195MonosaccharideA single sugar molecule such as glucose or fructose, the simplest type of sugar.6
7774087196Polysaccharidea carbohydrate whose molecules consist of a number of sugar molecules bonded together.7
7774087197amino acidsmolecules that contain carbon, hydrogen, oxygen, nitrogen, and sometimes sulfur8
7774087198glycerol and fatty acidsIn a fat molecule, the fatty acids are attached to each of the three carbons of the glycerol molecule with an ester bond through the oxygen atom9
7774087199TriglyceridesA triglyceride is an ester derived from glycerol and three fatty acids. Triglycerides are the main constituents of body fat in humans and other animals, as well as vegetable fat10
7774087200SteriodsA steroid is an organic compound with four rings arranged in a specific molecular configuration11
7774087201Phospholipidsa lipid containing a phosphate group in its molecule12
7774087202Dehydration reactiona chemical reaction that involves the loss of a water molecule from the reacting molecule13
7774087203Hydrolysis ReactionA chemical reaction in which water is used to break down a compound14
7774087204Hydrophobictending to repel or fail to mix with water15
7774087205Hydrophilichaving a tendency to mix with or dissolve in water.16
7774087206EnzymesCatalysts for chemical reactions in living things17
7774087207Activation energythe minimum quantity of energy that the reacting species must possess in order to undergo a specified reaction.18
7774087208pHA solutions acidity or H+ ion concentration is measured by a pH scale19
7774087209AcidA compound that releases a proton20
7774087210BasesCompounds that remove H+ from a solution21
7774087211Buffersa solution that resists changes in pH when acid or alkali is added to it.22

Biochemistry Flashcards

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7913012413substratesWhat binds and reacts at the surface of an enzyme?0
7913026021forming membranesthe function of a lipid in a cell1
7913038056enzymesaffects the rate of the reaction2
7913053760proteinscause a drop iodine to turns it black3
7913068994lactaseenzyme4
7913077797nucleic acidsmacromolecules which store and transmit genetic information5
7913090857simple sugarscomplex carbohydrates break down into these6
7913105356enzymesone class of biological molecules consists of proteins that function to speed up bio-chemical reactions7
7913120349lipidsfat molecules that store energy8
7913131424carbonan element that can be found in all living and previously living organisms9
7913148866proteina polymer assembled from some combination of 20 amino acids10
79131725583pH value that would be considered a strong acid11
79131854088pH value that would be considered a weak base12
7913195169chemical bondscellular energy is stored in the form of this13
7913206646meat/chickenfood which represents the largest source of protein14
7913219162polysaccaridesthe largest carbohydrates15
7913229799Benedict's solutionchemical reagent used to test for monosaccharides16
7913254444polypeptidesnucleotides are ti nucleic acids as amino acids are to ?17
7913275735enzymesfunction at an optimum temperature and pH18
7913296006carbonan element found in all organic compounds19
7913311956fatty foodstype of food that causes a translucent spot in bag where food was located20

Biochemistry Flashcards

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8239996313MonosaccharideA monomer which makes up carbohydrates. Carbohydrates can also be present in this form. These are typically sweet-tasting and used as an immediate energy source for cells Ex: glucose, fructose and galactose.0
8240022386DisaccharideA double sugar, consisting of two monosaccharides joined by dehydration synthesis, forming a glycosidic linkage. These are small enough to be soluble in water and are used as a transport form. Ex: lactose, maltose, sucrose1
8240030540PolysaccharideA polymer of thousands of simple sugars formed by dehydration synthesis. These are used in energy storage, cell structure or in cell recognition Ex: cellulose, glycogen, starch2
8241592217CelluloseA polysaccharide found in plant cell walls It is a linear molecule composed of beta-glucose in a 1,4 arrangement.3
8241609429StarchA polysaccharide used for energy storage in plants It is composed of alpha-glucose in a 1,4 arrangement Exists in two forms4
8241737602Fatty AcidLong hydrocarbon chains found in certain types of lipids (triglycerides and phospholipids) They may differ in length (4-24 carbons typically) and in the number of double bonds5
8241787146Saturated Fatty AcidThis type of fatty acid does not possess any double bonds. Therefore, it has the maximum possible number of Hydrogen atoms. They are linear in structure, originate from animal sources (ex.: fats) and are typically solid at room temperature.6
8241811934Monounsaturated Fatty AcidThis type of fatty acid possesses one double bond It is bent in structure, originates from plant sources (oils) and is typically liquid at room temperature.7
8241848539Polyunsaturated Fatty AcidThis type of fatty acid possess more than one double bond It is bent in structure, originates from plant sources (oils) and is typically liquid at room temperature.8
8241851571Cis (fatty acid)One type of unsaturated fatty acid isomer. The hydrogen atoms attached to the carbon double bond are on the same side9
8241869858Trans (fatty acid)One type of unsaturated fatty acid isomer The hydrogen atoms attached to the carbon double bond are on different sides These do not commonly occur in nature and are typically produced by an industrial process called hydrogenation They are generally linear in structure (despite being unsaturated) and are usually solid at room temperature10
8241907373TriglycerideLargest class of lipids which function primarily as long-term energy storage molecules They are formed when condensation reactions occur between one glycerol and three fatty acids (the condensation reactions created 3 molecules of water) Animals tend to store these as fats (solid), while plants tend to store these as oils (liquid)11
8329262509Primary protein structurePeptide bond that forms a linear sequence of amino acids12
8329268894Secondary protein structureHelix structure that occurs when the sequence of amino acids are linked by H bonds13
8329273398Tertiary protein structureStructure when protein molecules fold back on themselves; hydrophobic projections are now inside of the structure, hydrophilic projections are facing outside.14
8329283709DenaturationLoss of normal shape of a protein due to heat or other factor15
8329319728Quaternary protein structureStructure that is made up of two or more polypeptide chains and refers to the way the multiple subunits are held together in a multi-subunit complex16
8329608344MonomerA simple compound whose molecules can join together to form polymers17
8329608345PolymerA long molecule consisting of many similar or identical monomers linked together.18
8329609947AnabolismSynthetic, energy-requiring reactions whereby small molecules are built up into larger ones.19
8329610892CatabolismMetabolic pathways that break down molecules, releasing energy.20
8329630557HydrolysisBreaking down complex molecules by the chemical addition of water21
8329630558Condensation reactionReaction in which two molecules join together with the loss of a small molecule, typically water.22
8329643733D-ribose (deoxyribose)23
8329664834Alpha-glucose24
8329665971Beta-glucose25
8329667665Triglyceride (drawing)26
8329671060Phospholipid27
8329672825Steroid28
8329682544Cellulose (drawing)29
8329684982Glycogen (drawing)30
8329688420Amylose (Starch)31
8329689508Amylopectin (starch)32
8329700673AmyloseCarbohydrate found in plants. Alpha-glucose subunits, 1-4 bonds Harder to digest and less soluble but takes less space so it is preferred for energy storage in plants.33
8329703334AmylopectinCarbohydrate found in plants Alpha-glucose subunits, 1-4 and 1-6 bonds Branching approx. every 20 subunits34
8329706665GlycogenCarbohydrate found in animals Alpha-glucose subunits, 1-4 and 1-6 bonds Branching approx. every 10 subunits35
8334648458(Function of) triglycerideThis biomolecule is used as a long-term storage molecule in animals and plants.36
8334726705(Function of) celluloseThis biomolecule provides support in plant cell walland37
8334754034(Function of) starchThis biomolecule provides short-term energy storage in plants38
8334767974(Function of) glycogenThis biomolecule provides short-term energy storage in animals (found in liver)39
8334809574SucroseA disaccharide made of alpha-glucose and fructose40
8334810020MaltoseA disaccharide made of two units of alpha-glucose41
8334823589LactoseA disaccharide made of beta-glucose and galactose42
8345916229Urea43
83459269932NH3+CO2=H2N-COONH4=CN2H4O+H2OUrea creation formula44
8352894192Amino Acid (General Structure)45
8352970686Alpha helixThe spiral shape resulting from the coiling of a polypeptide in a protein's secondary structure46
8352977089Beta-pleated sheetsThis shape occurs when the amino acid sequence adopts a directionally-oriented staggered strand conformation47
8353032337Haemoglobin (hemoglobin)This protein is composed of two alpha chains and two beta chains as well as iron-containing haeme groups48
8353083143TranscriptionThe organic process whereby the DNA sequence in a gene is copied into mRNA49
8353088468TranslationProcess by which mRNA is decoded and a protein is produced50
8353100328ProteomeThe complete set of proteins that can be expressed by the genetic material of an organism.51
8353165181Structure (structural)Collagen and spider silk are examples of _____ proteins52
8353169890Hormone (hormonal)Insulin and glucagon are examples of _____ proteins53
8353196411ImmunityImmunoglobulin is an example of a _____ protein54
8353205856TransportHemoglobin is an example of a ____ protein55
8353216958SensationRhodopsin is an example of a _____ protein56
8353226101MovementActin and myosin are examples of ____ proteins57
8353230223EnzymeRubisco and catalase are examples of ____ proteins58
8353375908EnzymeA type of protein that speeds up a chemical reaction in a living thing Typically named after the molecules they react with and end with the suffix -ase59
8353387416SubstrateA specific reactant acted upon by an enzyme60
8353414567Active Site61
8353435494Brownian motionThe random motion of small particles suspended in a gas or liquid62
8353693973Induced fit (model)Model which refers to an enzyme's active site undergoing a change in shape to accommodate the substrates.63
8353707125Lock and key (model)According to this model, an enzyme's active site complements the substrate completely64
8369316266Nucleic Acid (Structure)65
8369439202Enzyme-Substrate ComplexA temporary complex formed when an enzyme binds to its substrate molecule(s).66

Biochemistry Flashcards

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8504126028adenosine deaminase deficiencycause of SCID (autosomal recessive) excessive ATP/dATP feedback inhibition of ribonucleotide reductase - prevents DNA synthesis and lowers lymphocyte count0
8504127466Lesch-Nyhan syndromedefective purine salvage (absence of HGPRT) hyperuricemia, gout, aggression, self-mutilation, retardation, dystonia Tx: allopurinol, febuxostat1
8504166162xeroderma pigmentosumprevents repair of pyrimidine dimers (UV light) - no nucleotide excision repair2
8504170785HNPCChereditary nonpolyposis colorectal cancer defective mismatch repair3
8504171074problems with nonhomologous end joiningataxia telangiectasia, Fanconi anemia4
8504174636mRNA start codonAUG5
8504174638mRNA stop codonsUGA, UAA, UAG6
8504178266RNA polymerase Imakes rRNA - most numerous RNA7
8504178549RNA polymerase IImakes mRNA - largest RNA inhibited by Amanita phalloides (death cap mushroom)8
8504179440RNA polymerase IIImakes tRNA - smallest RNA9
8504208416anti-U1 RNP antibodiesprevents spliceosomal snRNPs anti-Smith antibodies are specific for SLE associated with mixed connective tissue disease (MCTD)10
8504227692ribosomal units for eukaryotes40S + 60S = 80S11
8504227856ribosomal units for prokaryotes30S + 50S = 70S12
8504417835inhibits prokaryotic RNA polymeraserifampin13
8504417837inhibits prokaryotic topoisomerasefluoroquinolones14
8504418006inhibits prokaryotic dihydrofolate reductasetrimethoprim15
8504442432inhibits eukaryotic topoisomeraseetoposide16
8504462558Bloom syndromemutation of helicase - no DNA replication/repair17
8504464132ataxia telangiectasiadefective repair of dsDNA breaks18
8504464449BRCA1/2 mutationsdefective repair of dsDNA breaks19
8504473424targets of macrolidesVACUM TH BR Vibrio cholerae Acne Chlamydia Ureaplasma urealyticum Mycoplasma pneumoniae Tularemia H. pylori Borrelia burgdorferi Rickettsia ricketsii20
8504519115rifampininhibits RNA polymerase red secretions revs up cytochrome P-45021
8504531082dantroleneprevents release of calcium from sarcoplasmic reticulum of skeletal muscle22
8505300116Li-Fraumeni syndromemutations in p53 tumor suppressor gene - unrestrained cell division multiple malignancies at young age SBLA cancer syndrome = sarcoma, breast, leukemia, adrenal gland23
8505301135M phasemitosis (prophase, prometaphase, metaphase, anaphase, telophase) cytokinesis24
8505328377inclusion cell disease (mucolipidosis)inherited lysosomal storage disorder defect in N-acetylglucosaminyl-1-phosphotransferase: Golgi can't phosphorylate mannose residues on glycoproteins coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes fatal in childhood25
8505335559Nissl bodiesRER in neurons make peptide neurotransmitters for secretion26
8505336414signal recognition particle (SRP)cytosolic ribonucleoprotein that traffics proteins from ribosome to RER27
8505337992vesicular trafficking proteinsCOPI (retrograde, golgi to golgi) COPII (anterograde, ER to golgi) clathrin (golgi to lysosomes, plasma membrane to endosomes)28
8505346310peroxisomecatabolizes very-long-chain fatty acids, branched-chain fatty acids, and amino acids29
8505409938drugs that act on microtubulesMicrotubules Get Constructed Very Poorly mebendazole (antihelminthic) griseofulvin (antifungal) colchicine (antigout) vincristine/vinblastine (anticancer) paclitaxel (anticancer)30
8505411828microfilamentsmuscle contraction, cytokinesis actin31
8505412210intermediate filamentsmaintain cell structure vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins (GFAP), neurofilaments32
8505413001microtubulesmovement, cell division cilia, flagella, mitotic spindle, axonal trafficking, centrioles33
8505414529dyneinmotor protein - retrograde to microtubule34
8505414817kinesinmotor protein - anterograde to microtubule35
8505415791Kartagener syndrome (primary ciliary dyskinesia)AR dynein arm defect = immotile cilia results in infertility because of immotile sperm and fallopian tube cilia increased risk of ectopic pregnancy bronchiectasis, recurrent sinusitis, situs inversus36
8505446414type I collagenmost common type (90%) bone, skin, tendon dentin, fascia, cornea, late wound repair low in osteogenesis imperfecta type 137
8505448103type II collagencartilage (hyaline), vitreous body, nucleus pulposus38
8505448529type III collagenreticulin skin, blood vessels, uterus, fetal tissue, granulation tissue low in Ehlers-Danlos syndrome39
8505453345type IV collagenbasement membrane, basal lamina, lens low in Alport syndrome targeted by autoantibodies in Goodpasture syndrome40
8505458560collagen synthesissynthesis > hydroxylation > glycosylation > exocytosis > proteolytic processing > cross-linking41
8505464383osteogenesis imperfectabrittle bone disease AD low type I collagen multiple fractures with minimal trauma blue sclerae = translucency of connective tissue over choroidal veins hearing loss (abnormal ossicles) dental imperfections due to lack of dentin42
8505467084Ehlers-Danlos syndromeAD or AR 1. hypermobility type - most common 2. classical type - joint/skin, type V collagen 3. vascular type - organ rupture, type III collagen hyperextensible skin tendency to bleed (easy bruising) hypermobile joints joint dislocation, berry and aortic aneurysms, organ rupture43
8505474553Menkes diseaseimpaired copper absorption defective Menkes protein (ATP7A) low lysyl oxidase activity brittle "kinky" hair growth retardation hypotonia44
8505492942Marfan syndromedefect in fibrillin (glycoprotein that forms a sheath around elastin) - FBN1 gene on chr. 15 skeleton, heart, eyes tall with long extremities pectus excavatum hypermobile joints arachnodactyly cystic medial necrosis of aorta aortic incompetence dissecting aortic aneurysms floppy mitral valve upward/temporal subluxation of lenses45
8505493705alpha-1-antitrypsin deficiencyexcess elastase activity causes emphysema46
8505506364southern blotDNA47
8505506365northern blotRNA48
8505506366western blotprotein49
8505508895southwestern blotDNA-binding proteins50
8505584250McCune-Albright syndromemutation in G-protein signaling unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine problems only survivable if mutations in some cells (mosaicism)51
8505613721Prader-Willi syndromepaternal gene deleted on chr. 15 hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia52
8505616705Angelman syndromematernal gene deleted on chr. 15 inappropriate laughter (happy puppet), seizures, ataxia, severe intellectual disability53
8505622013hypophosphatemic rickets (vitamin D-resistant rickets)phosphate wasting at proximal tubule54
8505624649mitochondrial myopathiesmyopathy, lactic acidosis, CNS disease failure in oxidative phosphorylation muscle biopsy: ragged red fibers55
8505628240autosomal dominant polycystic kidney disease (ADPKD)AD bilateral enlargement of kidneys mutation in PKD1 on chr. 16 mutation in PKD2 on chr. 456
8505630578familial adenomatous polyposis (FAP)AD onset after puberty progresses to colon cancer if not resected mutations on chr. 5q57
8505631868familial hypercholesterolemiaAD high LDL because of defective LDL receptor severe atherosclerosis, corneal arcus, tendon xanthomas (Achilles tendon)58
8505638625hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)AD blood vessel disorder branching skin lesions (telangiectasias), recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria59
8505644050hereditary spherocytosisAD spectrin/ankyrin defect hemolytic anemia, high MCHC, high RDW Tx: splenectomy60
8505646805Huntington diseaseAD depression, progressive dementia, choreiform movements, caudate atrophy high DA, low GABA, low ACh in brain gene on chr. 4 - trinucleotide repeat (CAG) anticipation = more repeats - younger age of onset61
8505718980multiple endocrine neoplasias (MEN)AD several distinct syndromes (1, 2A, 2B) pancreas, parathyroid, pituitary, thyroid, adrenal medulla MEN1: MEN1 gene MEN2A/MEN2B: RET gene62
8505725738neurofibromatosis type 1 (von Recklinghausen disease)AD - 100% penetrance, variable expression NF1 gene on chr. 17 neurocutaneous disorder cafe-au-lait spots cutaneous neurofibromas optic gliomas pheochromocytomas Lisch nodules (pigmented iris hamartomas)63
8505734829neurofibromatosis type 2AD NF2 gene on chromosome 22 bilateral acoustic schwannomas juvenile cataracts meningiomas ependymomas64
8505737635tuberous sclerosisAD - incomplete penetrance, variable expression neurocutaneous disorder numerous benign hamartomas65
8505757045von Hippel-Lindau diseasedeletion of VHL gene (tumor suppressor) on chr. 3 numerous tumors (benign and malignant)66
8505775239cystic fibrosisAR defect in CFTR gene on chr. 7 deletion of Phe508 most common lethal genetic disease in Caucasians CFTR: ATP-gated chloride channel - secretes chloride in lungs and GI tract, reabsorbs chloride in sweat glands thick mucus in lungs and GI tract increased sodium reabsorption causes more negative transepithelial potential difference Dx: sweat chloride > 60 mEq/L, immunoreactive trypsinogen recurrent pulmonary infections (Pseudomonas) chronic bronchitis/bronchiectasis reticulonodular pattern on CXR pancreatic insufficiency malabsorption = steatorrhea nasal polyps meconium ileus in newborns male infertility (absent vas deferens) female subfertility (amenorrhea, thick cervical mucus) fat-soluble vitamin deficiency - ADEK Tx: NAC to loosen mucus plugs, dornase alfa to clear leukocytic debris67
8505828167X-linked recessive disordersBe Wise, Fool's GOLD Heeds HOpe. Bruton agammaglobulinemia Wiskott-Aldrich syndrome Fabry disease G6PD deficiency Ocular albinism Lesch-Nyhan syndrome Duchenne/Becker muscular dystrophy Hunter syndrome Hemophilia A/B Ornithine transcarbamylase deficiency68
8505833649autosomal recessive diseasesalbinism autosomal recessive polycystic kidney disease (ARPKD) cystic fibrosis glycogen storage diseases hemochromatosis Kartagener syndrome mucopolysaccharidoses (exception: Hunter syndrome) phenylketonuria sickle cell anemia sphingolipidoses (exception: Fabry disease) thalassemias Wilson disease69
8506218392myotonic muscular dystrophy (type 1)AD CTG trinucleotide repeat in DMPK gene myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia My Tonia, My Testicles, My Toupee, My Ticker.70
8506223944fragile X syndromeFMR1 gene - trinucleotide repeat (CGG) post-pubertal macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse71
8506230740trinucleotide repeat expansion diseasesTry hunting for my fried eggs. Huntington disease (CAG) myotonic dystrophy (CTG) Friedreich ataxia (GAA) fragile X syndrome (CGG) Ex-Girlfriend's First Aid Helped Ace My Test.72
8506377669DiGeorge syndromechr. 22q1173
8506423172cri-du-chat syndromemicrodeletion of short arm of chr. 5 microcephaly, moderate/severe intellectual disability, high-pitched crying (meowing), epicanthal folds, VSD74
8506426672Williams syndromemicrodeletion of long arm of chr. 7 (elastin gene) elfin facies intellectual disability hypercalcemia (sensitivity to vitamin D) well-developed verbal skills extreme friendliness with strangers cardiovascular problems75
850643422222q11 deletion syndromes (CATCH-22)cleft palate abnormal facies T-cell deficiency (thymic aplasia) cardiac defects hypocalcemia (parathyroid aplasia) DiGeorge syndrome: thymic, parathyroid, cardiac velocardiofacial syndrome: palate, facial, cardiac76
8506464919vitamin A (retinol)visual pigments (retinal) differentiates epithelial cells into pancreatic cells and mucus-secreting cells prevents squamous metaplasia used for measles and AML (subtype M3) deficiency: night blindness, dry scaly skin, corneal degeneration (keratomalacia), spots on conjunctiva, immunosuppression77
8506478667vitamin B1 (thiamine)thiamine pyrophosphate (TPP) cofactor for dehydrogenase enzyme reactions: - pyruvate dehydrogenase - alpha-ketoglutarate dehydrogenase - transketolase - branched-chain ketoacid dehydrogenase deficiency: Wernicke-Korsakoff syndrome: ophthalmoplegia, ataxia, confusion, confabulation, personality change, memory loss (permanent) - damage to medial dorsal nucleus of thalamus and mammillary bodies dry beriberi: polyneuritis, symmetrical muscle wasting wet beriberi: high-output cardiac failure (dilated cardiomyopathy), edema78
8506496568vitamin B2 (riboflavin)found in FAD and FMN - cofactors in redox reactions (succinate dehydrogenase reaction in TCA cycle) deficiency: cheilosis, corneal vascularization79
8506508619vitamin B3 (niacin)constituent of NAD+/NADP+ derived from tryptophan requires vitamins B2 & B6 for synthesis lowers VLDL, raises HDL deficiency: glossitis pellagra = diarrhea, dementia, dermatitis caused by: Hartnup disease, malignant carcinoid syndrome, isoniazid dermatitis - "broad collar" rash in C3 and C4 dermatomes excess: facial flushing80
8506522459vitamin B5 (pantothenic acid)part of coenzyme A (CoA) and fatty acid synthase81
8506529598vitamin B6 (pyridoxine)converted to pyridoxal phosphate (PLP) cofactor used in transamination (ALT/AST) deficiency: convulsions, irritability, peripheral neuropathy, sideroblastic anemia82
8506555064vitamin B7 (biotin)cofactor for carboxylation enzymes: - pyruvate carboxylase - acetyl-CoA carboxylase - propionyl-CoA carboxylase deficiency caused by excessive egg whites83
8506568496vitamin B9 (folate)converted to tetrahydrofolate (THF) leafy green vegetables absorbed in jejunum stored in liver deficiency: macrocytic megaloblastic anemia hypersegmented PMNs glossitis increased homocysteine normal methylmalonic acid deficiency caused by: phenytoin sulfonamides methotrexate most common deficiency in U.S. (alcoholism and pregnancy)84
8506594155vitamin B12 (cobalamin)cofactor for homocysteine methyltransferase deficiency: degeneration of: dorsal columns, lateral corticospinal tracts, spinocerebellar tracts irreversible nerve damage high homocysteine and MMA85
8506617930vitamin C (ascorbic acid)reduces iron (Fe3+ to Fe2+) good for methemoglobinemia hydroxylation of proline and lysine needed for dopamine beta-hydroxylase (DA to NE) deficiency: scurvy = swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular/subperiosteal hemorrhages, corkscrew hair excess leads to risk of iron toxicity86
8506646521vitamin DD2 = ergocalciferol D3 = cholecalciferol 25-OH D3: storage form 1,25-(OH)2 D3: calcitriol - active form increases absorption of calcium/phosphate deficiency: rickets in children osteomalacia in adults hypocalcemic tetany87
8506657763vitamin E (tocopherol/tocotrienol)protects RBCs and membranes from free radical damage deficiency: hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination88
8506710278zincimportant for zinc finger motif deficiency: poor wound healing, hypogonadism, decreased adult hair, dysgeusia, anosmia, acrodermatitis enteropathica89
8506723518Kwashiorkorprotein malnutrition MEAL: malnutrition, edema, anemia, liver (fatty)90
8506723946Marasmustotal calorie malnutrition: tissue and muscle wasting, loss of subcutaneous fat, variable edema91
8508094750fomepizoleblocks alcohol dehydrogenase antidote for methanol and ethylene glycol NAD+ is limiting reagent92
8508095318disulfiramblocks acetaldehyde dehydrogenase NAD+ is limiting reagent93
8508101178by-products of ethanol metabolismlactate, malate (prevents gluconeogenesis), glycerol-3-phosphate (combines with fatty acids to make triglycerides) increased NADH:NAD ratio disfavors TCA cycle and favors ketogenesis/lipogenesis94
8508112112metabolic processes in mitochondriafatty acid oxidation (beta-oxidation) acetyl-CoA production TCA cycle oxidative phosphorylation ketogenesis95
8508112726metabolic processes in cytoplasmglycolysis fatty acid synthesis HMP shunt protein synthesis (RER) steroid synthesis cholesterol synthesis96
8508116437metabolic processes in both mitochondria and cytoplasmheme synthesis urea cycle gluconeogenesis97
8508155736rate-limiting step: glycolysisphosphofructokinase-1 (PFK-1)98
8508156329rate-limiting step: gluconeogenesisfructose-1,6-bisphosphatase99
8508157263rate-limiting step: TCA cycleisocitrate dehydrogenase100
8508159385rate-limiting step: glycogenesisglycogen synthase101
8508169551rate-limiting step: HMP shuntG6PD102
8508170074rate-limiting step: de novo pyrimidine synthesisCPS-2 (carbamoyl phosphate synthetase 2)103
8508170760rate-limiting step: de novo purine synthesisglutamine PRPP amidotransferase104
8508171653rate-limiting step: urea cycleCPS-1 (carbamoyl phosphate synthetase 1)105
8508172128rate-limiting step: fatty acid synthesisacetyl-CoA carboxylase106
8508173315rate-limiting step: fatty acid oxidationcarnitine acyltransferase 1107
8508173548rate-limiting step: ketogenesisHMG-CoA synthase108
8508174075rate-limiting step: cholesterol synthesisHMG-CoA reductase109
8508353081pyruvate dehydrogenase complexlinks glycolysis and TCA cycle pyruvate + NAD + CoA > acetyl-CoA + CO2 + NADH cofactors required: pyrophosphate (vit. B1) FAD (vit. B2) NAD (vit. B3) CoA (vit. B5) lipoic acid activated by exercise - rise in Ca, ADP, NAD:NADH110
8508377289ketogenic amino acidslysine and leucine111
8508447558irreversible enzymes in gluconeogenesispyruvate carboxylase phosphoenolpyruvate carboxykinase fructose-1,6-bisphosphatase glucose-6-phosphatase112
8508522827GP6D deficiencyHeinz bodies Bite cells NADPH is necessary to keep glutathione reduced, which detoxifies free radicals and peroxides.113
8508539711essential fructosuriaAR defect in fructokinase fructose in blood/urine114
8508542395fructose intoleranceAR deficiency of aldolase B fructose-1-phosphate accumulates - inhibits glycogenolysis and gluconeogenesis urine dipstick will be negative (neg. for glucose) hypoglycemia, jaundice, cirrhosis, vomiting Tx: avoid fructose and sucrose115
8508549998galactosemiaAR no galactose-1-phosphate uridyltransferase (G1PUT) accumulation of galactitol in lens of eye failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability E. coli susceptibility in babies Tx: avoid galactose and lactose116
8508758366N-acetylglutamate synthase deficiencyrequired cofactor for carbamoyl phosphate synthetase 1 leads to hyperammonemia117
8508889372maple syrup urine diseaseAR can't break down branched amino acids (isoleucine, leucine, valine) increased alpha-ketoacids in blood Tx: thaimine supplements, avoid branched aa's I Love Vermont maple syrup from branched trees.118
8508910276alkaptonuriaAR deficiency of homogentisate oxidase homogentisic acid accumulates in tissue dark connective tissue, brown pigmented sclerae, urine turns black, arthralgia119
8508975548cystinuriaAR can't reabsorb cysteine/ornithine/lysine/arginine precipitation of hexagonal cystine stones Tx: urinary alkalinization and chelating agents120
8509032206glycogen storage diseasesVon Gierke disease (type I) Pompe disease (type II) Cori disease (type III) McArdle disease (type V)121
8509040469von Gierke diseaseAR severe fasting hypoglycemia high glycogen, high lactate, high triglycerides, high uric acid, hepatomegaly deficient glucose-6-phosphatase Tx: frequent oral glucose and cornstarch, avoid fructose/galactose122
8509044739Pompe diseaseAR trashed pumps - heart, liver, muscle deficient in lysosomal alpha-1,4-glucosidase cardiomegaly, HCM, exercise intolerance, systemic findings leading to early death123
8509084489Cori diseasemilder form of Von Gierke disease124
8509085024McArdle diseaseincreased glycogen in muscle muscle cannot break down - painful muscle cramps, myoglobinuria, arrhythmia deficient in skeletal muscle glycogen phosphorylase Tx: vitamin B6125
8509113782Fabry diseaseperipheral neuropathy of hands/feet angiokeratomas cardiovascular/renal disease deficiency of alpha-galactosidase A126
8509116758Gaucher diseasedeficiency in glucocerebrosidase most common hepatosplenomegaly pancytopenia osteoporosis aseptic necrosis of femur bone crises Gaucher cells (lipid-laden macrophages) Tx: recombinant glucocerebrosidase127
8509118925Niemann-Pick diseasedeficiency of sphingomyelinase progressive neurodegeneration hepatosplenomegaly foam cells (lipid-laden macrophages) cherry-red spot on macula No man picks his nose with his sphinger.128
8509121636Tay-Sachs diseasedeficiency in hexosaminidase A progressive neurodegeneration developmental delay cherry-red spot on macula lysosomes with onion skin no hepatosplenomegaly! Tay-SaX lacks heXosaminidase.129
8509133710Krabbe diseasedeficiency in galactocerebrosidase peripheral neuropathy, developmental delay, optic atrophy, optic atrophy, globoid cells130
8509140050Hurler syndromedevelopmental delay gargoylism airway obstruction corneal clouding hepatosplenomegaly deficiency in alpha-L-iduronidase131
8509140954Hunter syndromeX-linked recessive mild form of Hurler syndrome aggressive behavior no corneal clouding deficiency in iduronate sulfatase Hunters see clearly and aggressively aim for the X.132

Biochemistry Flashcards

Terms : Hide Images
8541523740coagulation factors I and Vwhat are the coagulation factors released on platelet activation0
8541523680erythropoietin - kidneywhat regulates RBC production - where is it released from?1
8541523681O2 levelswhat is the most important regulator of RBC production?2
8541523682low O2what level, high or low, of O2 stimulates RBC production through the action of erythropoietin3
8541523683low blood volume, anemia, low Hb, poor blood flow, pulmonary disease, altitudewhat are some things that decrease O2 levels, thus causing increased RBC production4
8541523684increased RBC productionwhat is polycthemia5
8541523685too little O2 in the airwhat is physiologic polycythemia6
8541523686mutation that doesn't stop RBC production when there is enough - therefore there are too many RBC made patients have reddened appearance of the skinwhat is polycythemia vera7
8541523687vitamin B12, folic acid, intrinsic factor (allows B12 to cross ileum)what vitamins are necessary for RBC production8
8541523688pernicious anemia -failure to absorb vitamin B12 from the GI tractlack in intrinsic factor is called what?9
8541523689stimulates release of oxygen (to the left)how does 2,3-BPG shift the Hb curve?10
8541523690spleenwhere do RBC self-destruct?11
8541523691defective synthesis of membrane cytoskeletal proteins and makes the RBC susceptible to mechanical stress - cells become sphericalwhat is spherocytosis12
8541523692glucosewhat does the RBC use as energy?13
8541523693lactate dehydrogenasewhat enzyme in the RBC converts pyruvate into lactate?14
8541523694glycolysiswhat is the only metabolic pathway in RBCs?15
8541523695pentose phosphate pathwayG6PD is important in what offshoot pathway in the RBC?16
8541523696methemoglobinwhat is another name for Fe3+?17
8541523697caused by ROSwhat causes methemoglobin?18
8541523698decreased O2 deliverywhat is bad about methemoglobin19
8541523699NADHwhat is used to regenerate Fe2+ from Fe3+?20
8541523700increases O2 delivery to tissueswhat does the 2,3-BPG shunt do?21
8541523701decreased ATP production -RBC ion transporters are affected and this causes hemolytic anemia -can be masked by effects of 2,3BPGwhat happens in pyruvate kinase deficiency?22
8541523702gain Ca, lose K, lose H2Owhat changes in Ca, K, H2O in pyruvate kinase deficiency?23
8541523703cannot protect membrane proteins against oxidationwhat happens in G6PD deficiency?24
8541523704RBC have shorter lifespanwhat happens to RBC in G6PD deficiency?25
8541523705more resistant to malariawhat is one "benefit" of G6PD deficiency?26
8541523706ironwhat ion is required for heme synthesis?27
8541523707transferrinwhat protein does iron bind with to be transported throughout the body?28
8541523708ferritinwhat is the name of the iron storage molecule in the liver?29
8541523709complex of ferritin moleculeswhat is hemosiderin30
8541523710microcytic and hypochromic anemiawhat is the anemia in iron deficiency anemia?31
8541523711iron deficiency anemia32
8541523712bilirubinthe porphyrin part of Hb is converted into what?33
8541523713high - patient often presents with jaundicein hemolytic anemia, what are the bilirubin levels like?34
8541523714hemolytic anemia35
8541523715porphyriaswhat are deficiencies of any enzyme in the heme synthesis pathway called?36
8541523716gamma-aminolevulinic acid synthasewhat is the main regulatory enzyme of the heme synthesis pathway37
8541523717heme (decreases enzyme activity)gamma-aminolevulinic acid synthase is regulated by what molecule? what change?38
8541523718uroporphyrinogen decarboxylaseporphyria cutanea tarda is a deficiency in what enzyme?39
8541523719scarring and increased facial hair growthporphyria cutanea tarda has what s/s40
8541523720gamma is swapped for betapost-natal, what is the change in globulin chains?41
8541523721large excess of 1 subunit of Hbwhat are the thalassemias42
8541523722beta chain deficiencywhat is the most severe thalassemia?43
8541523723heterozygouswhat type of thalassemia is more resistant to malaria?44
8541523724Glu6Val on β-globinmost common mutation causing sickle cell disease45
8541523725more likely to aggregate in deoxygenated statewhen are HbS (sickle cell anemia) most likely to aggregate?46
8541523726heterozygous formwhat form of sickle cell disease is more resistant to malaria?47
8541523727increase EPO releasehow does anemia increase RBC production48
85415237285 dayshow long does it take to see an increase in RBC/increase in hematocrit?49
8541523729impaired Hb synthesismicrocytic, hypochromic anemia - cause?50
8541523730red cell lossnormocytic, normochromic anemia - cause?51
8541523731macrocytic, normochromic anemia (megaloblastic anemia)what type of red cell morphology anemias do vitamin B12 or folic acid deficiencies cause?52
8541523732O - bc have no antigens (cannot be attacked by host cell)Which blood type is aka the "universal donor" and why?53
8541523733AB - bc it doesn't produce Ab that attack incoming bloodWhich could be called the "universal acceptor" and why?54
8541523734A+ or OWhat type(s) of blood can someone with A+ blood receive in a transfusion?55
8541523735dad is Rh+ and mom is Rh- and baby is Rh+...but this happens after the moms first kid because mom created Rh factor bc of exposure to kid's Rh+erythroblastosis fetalis happens with what combination of Rh?56
8541523736rhogamwhat drug is used to prevent erythroblastosis fetalis?57
8541523737Rh+ RBCs in fetus attacked by mother's antibodieswhat happens in erythroblastosis fetalis?58
8541523741promotes vasoconstrictionwhat does 5-OH tryptamine (serotonin) do when released on platelet activation59
8541523742stimulates repair of damaged tissueswhat does platelet-derived growth factor do?60
8541523743aspirinwhat inhibits the production of thromboxin A261
8541523744plavix (clopidogrel) - blocks the effects of ADPwhat is one name for an ADP receptor antagonist?62
8541523745pleckstrinwhat molecule, activated by PKC, causes aggregation and release of contents of platelet granules?63
8541523746stimulation of the polyphosphoinositide pathwayhow are prostacyclin, collagen, TxA2, thrombin, and ADP activated (in the platelet activation pathway)?64
8541523747intrinsic pathway (contact factor) extrinsic factor (tissue factor)what are the two pathways for clot formation65
8541523748contact factorwhat factor in the intrinsic clotting pathway66
8541523749tissue factorwhat factor in the extrinsic clotting pathway67
8541523750-formation of prothrombin -prothrombin to thrombin (by factor X) -conversion of fibrinogen to fibrin (by thrombin) -forms insoluble mesh -cross-linking of polymerspathway of clot formation from prothrombin --> clot68
8541523751glycoproteins - synthesized in the liver circulate in the plasmawhat are clotting factors (type of molecule), where are they made, and where do they go?69
8541523752Christmas factorwhat is factor IX also called?70
8541523753XII, XI, IX, VII, X, and prothrombinwhat factors are serine proteases and are activated in a cascade71
8541523754factors V, VIII, IIIwhat factors are cofactors that bind to other factors?72
8541523755cross-linking of fibrin monomerswhat process forms the "hard" clot?73
8541523756free (NOT fibrin bound) plasmin inactivates itwhat does alpha-2 antiplasmin bind to? and what does it do?74
8541523757plasminwhat degrades the clot?75
8541523758tissue plasminogen activator (released from vascular endothelium)what activates plasminogen (bound to fibrin in the clot) to create plasmin that eventually breaks down fibrin?76
8541523759antithrombin III (MOST IMPORTANT) alpha-1 antiprotease alpha-2 macroglobulinwhat are the three molecules that inactive thrombin that is NOT localized to the clot and prevent inappropriate clotting?77
8541523760antithrombin IIIwhat is the most important plasma inhibitor of thrombin (not localized to the clot)78
8541523761heparinwhat activates antithrombin III?79
8541523762binds thrombin and activates protein C (makes thrombin change from a procoagulant to an anticoagulant at sites where clots shouldn't form)what does thrombomodulin do?80
8541523763activates antithrombin III to prevent inappropriate clottingwhat does heparan sulphate do?81
8541523764inhibits platelet activationwhat does prostacyclin do?82
8541523765becomes anticoagulant after binding thrombomodulin on the cell surfaceafter binding thrombomodulin, what happens to thrombin?83
8541523766DVTmutations in proteins C and S can cause what?84
8541523767protein Swhat is the cofactor for protein C?85
8541523768V and VIIIwhen thrombin becomes an anticoagulant, what factors does it work on? to prevent clotting?86
8541523769X Linked recessiveinheritance pattern of hemophilia A87
8541523770deficiency of factor VIII (intrinsic pathway)what is the deficiency in hemophilia A88
8541523771spontaneous bleeding into joints and soft tissueswhat happens in hemophilia A89
8541523772replacement therapy of factor VIIItreatment of hemophilia A90
8541523773x linked recessiveinheritance pattern of hemophilia B91
8541523774deficiency of factor IX (intrinsic pathway)what is the deficiency in hemophilia B92
8541523775replacement therapytreatment of hemophilia B93
8541523776autosomal dominantinheritance pattern of hemophilia C94
8541523777deficiency in factor XIdeficiency in what for hemophilia C95
8541523778autosomal dominantvon willebrand disease96
8541523779deficiency of von willebrand factordeficiency in what for von willebrand disease97
8541523780reduced platelet recruitment and reduced delivery of factor VIII (which is stabilized by binding to vWF)what happens in vWB disease?98
8541523781desmopressin to promote vWF levels and replacement therapy of vWF and VIIItreatment of vWB disease99
8541523782factor Vleiden mutation is a mutation in what factor?100
8541523783caucasian europeanpopulation commonly affected with leiden mutation101
8541523784factor V is resistant to inactivation by protein S/C complex which increases the risk of DVTwhat does the mutation in leiden mutation cause?102
8541523785-maintenance of plasma pressure -binding and transport of small molecules and ions -defense against infection -blood clotting -inhibition of proteolytic enzymesfunctions of plasma proteins103
8541523786albumin (most common), globulins (a1, a2, b, y), clotting factorswhat are the classifications of plasma proteins104
8541523787liverwhere is albumin synthesized?105
8541523788liverwhere are alpha and beta globulins synthesized?106
8541523789liverwhere are clotting factors synthesized?107
8541523790plasma cellswhere are gamma globulins synthesized?108
8541523791albuminwhat is the major protein in human plasma109
8541523792albuminwhat is responsible for the osmotic pressure of plasma110
8541523793decreasesthe serum albumin level __________ in edema111
8541523794albuminwhat plasma protein is important when considering drug dosing?112
8541523795transports retinol and thyroxine (T4) - important because retinol is small enough for excretion so this saves it from excretion another name - prealbuminwhat does transthyretin transport? and what is another name for it?113
8541523796inhibits serum proteases and protects degeneration of alveolar tissuealpha-1-antitrypsin does what?114
8541523797emphysemadeficiency of A1AT causes what?115
8541523798fetal liver - small amounts in adult bloodwhere is alpha-fetoprotein made?116
8541523799hepatocellular carcinoma and testicular teratomaalpha-fetoprotein increases in what two diseases?117
8541523800fetal body wall defectsalpha-FP is used as a marker for what?118
8541523801protease inhibitor, transports Zn2+, binds cytokineswhat does alpha-2-macroglobulin do?119
8541523802haptoglobinwhat is the major component of alpha-2 globulin fraction?120
8541523803haptoglobinwhat binds hemoglobin released during hemolysis121
8541523804haptoglobinwhat prevents loss of free hemoglobin into the kidney and conserves iron122
8541523805hemolytic anemiahaptoglobin levels are depleted in what disease?123
8541523806binds heme and hematin and conserves iron beta 1-globulinwhat does hemopexin do? and what is it?124
8541523807HB released from RBC Hb divides into dimers and the dimers are picked up by haptoglobin OR the dimers break down even further and they are bound to hemopexinhow do haptoglobin and hemopexin conserve iron?125
8541523808transports iron in plasmawhat does transferrin do?126
8541523809total iron binding capcityplasma transferrin concentration is measured by what?127
8541523810ferritin appears in plasmawhen there is excess iron, what do you see?128
8541523811Hb and Mbwhere is most iron in the body found?129
8541523812autosomal recessiveinheritance pattern of hemochromatosis130
8541523813defective HFE gene on chromosome 6what and where is the defect in primary hemochromatosis131
8541523814-binds transferrin receptor and decreases its affinity for transferrin -upregulates the expression of hepcidin (a peptide that down-regulates iron release and inhibits iron absorption)what does the HFE protein NORMALLY do?132
8541523815bronze diabetes or the celtic curseother names for hemochromatosis133
8541523816--high blood iron levels because there is loss of regulation of absorption of iron in the small intestine --HFE gene (think High, FE (iron) levels)what is the major problem seen in hemochromatosis - how can you remember the gene134
8541523817binds plasma copperwhat does ceruloplasmin do?135
8541523818mutation in gene encoding hepatic Cu-binding ATPase so there is defective excretion of copper into the bile with accumulation of copper in liver, brain, and kindneywhat is wilson's disease136
8541523819penicillaminetreatment of wilson's disease137
8541523820xlinked recessive defect in Cu binding ATP ase causes fatality in childhoodwhat is menkes disease138
8541523821wilson diseasekaiser-fleischer ring in what disease?139
8541523822increase in gamma globulin bandwhat change in electrophoresis of plasma proteins in chronic conditions140
8541523823increased alpha 1, 2, and beta 2 bandswhat change in electrophoresis of plasma proteins in inflammation or after trauma141
8541523824gamma globulin bandwhat change in electrophoresis of plasma proteins in monoclonal gammopathy (like multiple myeloma)142

Biochemistry Flashcards

Terms : Hide Images
6003354026Organic chemistrystudy of molecules that have carbon in them0
6003354027Hydroxylone of the functional groups1
6003354028Carbonylone of the functional groups2
6003355608Carboxylone of the functional groups3
6003357556Phosphateone of the functional groups4
6003357557Amineone of the functional groups5
6003357558Carbohydratesfood that gives us energy6
6003359352LipidFats7
6003359353Unsaturated fata type of fat, liquid at room temp8
6003360907Saturated fata type of fat, solid at room temp9
6003362389SteroidA type of lipid that affects your horomones10
6003365604TriglycerideA type of lipid11

biochemistry Flashcards

Terms : Hide Images
7840314647biochemistrythe science concerned with the chemical reactions and processes that occur within living organisms0
7840393470atomthe smallest part of a matter that contains protons, neutrons, and electrons1
7840399599elementa pure substance that contains atoms. It is made up on only one kind of atom2
7840412855compounda substance where two or more elements combine to form a material EXAMPLE: h20 /water, NaCl / sodium chloride / table salt3
7840422130neutronlocation; nucleus, charge; neutral or no charge or 0, mass; 14
7840428922protonlocation; nucleus, charge; positive or +, mass; 15
7840433197electronlocation; electron cloud, charge; negative or -, mass; 1/20006
7840450840atomic numbernumber of protons in the nucleus7
7840459312atomic massnumber of protons and neutrons in nucleus8
7840465810how to find the number of neutrons in an atomatomic mass - atomic number9
7840475745the number of protonsthe number of electrons is equal to ...10
7853678814acida substance which when added to water produces hydrogen ions (h+)11
78536815494 characteristics of acids1. reacts with metals to form hydrogen gas 2. corrosive to body tissue 3. tastes sour 4. conducts electricity12
7853694322base/alkalinea substance which when added to water produces hydroxide ions (OH-)13
78537050114 characteristics of bases1. tastes bitter 2. conducts electricity 3. feels soapy/slippery 4. corrosive to body tissue14
7853768775pH scale15
79703430234 macromoleculescarbohydrates, lipids/fats, proteins, and nucleic acids16
7970353391functions of carbohydratesfuel the body and create the structure of plant cellulose17

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