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BIOCHEMISTRY Flashcards

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6750300535PurinePRPP Plus THF, CO2, GLY, GLU0
6750311325Ribavarin MycophenylateInhibits IMP -> GMP conversion1
6750316594HGPRTEnzyme lacking in Lesch Nyhann2
6750321722XOEnzyme for conversion of Hypoxanthine to Xanthine3
6750329796PyrimidineGLU + CO2 -> Carbamoyl Phosphate -> Orotic Acid Orotic Acid + PRPP4
6750333397Orotic AciduriaDisease due to inhibition of pyrimidine synthesis...UMP synthase lacking5
6750341413Thymidylate SynthaseEnzyme blocked by 5FU6
6750346262MTX TMP PyramethamineDrugs that block DHF Reductase7
6750348506B12This catalyzes: Homocystine->Methionine N5M THF -> THF8
6750355523GLUT1Insulin independent glucose transporter in the brain9
6750355524GLUT4Insulin dependent glucose transporter in the fat/muscle10
6750359849GLUT2Insulin independent glucose transporter that is bi-directional - intestine, liver, pancreas11
6750365455GLUT 5Glucose transporter for fructose12
6750369602CytoplasmLocation of Glycolysis13
6750374705CytoplasmLocation of FA Synthesis14
6750376445CytoplasmLocatino of HMP SHunt15
6750376446MitochondriaLocation of FA Oxidation16
6750378977MitochondriaLocation of TCA cycle17
6750378978MitochondriaLocation of Ketogenesis18
6750382268Heme Synthesis Urea Cycle GluconeogenesisPathways that occur in both the cytoplasm and mitochondria19
6750390500Lysosomal Alpha 1,4 GlucosidaseEnzyme deficiency in Pompe Disease20
6750392913G6 Phosphatase (liver)Enzyme deficiency in Von Gierke21
6750397891Debranching EnzymeEnzyme deficiency in Cori Disease22
6750401575Glycogen Phospholylase (Muscle)Enzyme deficiency in McArdle Disease23
6750401576Von GierkeFasting w/o Gluconeogenesis Fasting Hypoglycemia Hepatomegally Lactic Acidosis24
6750408460Pompe DiseaseNormal Blood Glucose Large Tongue Heart Failure Death in Infancy/childhood25
6750413622Cori DiseaseMild Fasting Hypoglycemia Cardiomyopathy Hepatomegally Hypotonia26
6750416936McArdleHigh glycogen in muscle Cramping w/ exercise Normal blood glucose27
6750422865FructokinaseCause of essential fructosuria (benign fructose in urine)28
6750425726Aldolase BCause of hereditary fructose intolerance29
6750428579Hereditary Fructose IntoleranceNo Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Normal Eyes30
6750437719G1P UridyltransferaseCause of Classic Galactosemia31
6750440281Classic GalactosemiaNo Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Cataracts32
6750447360ArsenicInhibits Lipoic Acid Block Pyruvate Dehydrogenase Garlic Smell33
6750451432PDH DeficiencyIncreased Lactate Increased Alanine X Linked Tx - low carb high fat diet34
6750459721MalateThis brings NADH electrons from the cytosol to the mitochondria35
6750462283Complex IETC location of NADH Dehydrogenase36
6750465350Complex IIETC location of Cuccinate Dehydrogenase (FADH2 enter)37
6750467960Complex IVETC location of H20 Generation38
6750475264TransketolaseEnzyme that converts Ribose 5P to Ribulose 5P39
6750478348NADPHThis is required for FA Synthesis and respiratory burst40
6750481339NADPH Oxidase Deficiency - CGDEnzyme responsible for converstion of O2 to free radical oxygen41
6750487181SODEnzyme for conversion of free radical O2 to H2O242
6750489023X linkedInheritance of G6PD Deficiency43
6750494641Staph Aureus Pseudomonas Serratia Nocardia AspergillusBugs in CGD44
6750499922CarnitineDeficiency in this prevents movement of Fatty Acyl CoA's into the mitochondria45
6750506158MCADDeficiency in this leads to high acyl carnitine and decreased blood glucose46
6750510675ODD CHAIN FA AA CholesterolThese molecules are converted into propinoyl coA and brought into the TCA via conversion to methylmalonyl CoA47
6750520172Propinoyl CoA Acidemia Methylmalonic AcidemiaAG Acidosis High NH3 Vomiting Hypotonia48
6750521779Fabry DiseaseAlpha Galactosidase A Deficiency Buildup of Ceramides49
6750523950Fabry DiseaseSlowly progressive disease Hand/Foot Neuropathy Angiokeratomas Renal Failure Hypertrophic CM50
6750527729Gaucher DiseaseGlucocerbrosidase Deficiency Buildup Glucocerebrosides51
6750530337GaucherHepatosplenomegally Pancytopenia Bruising Avascular Necrosis Bone Crisis52
6750532768Gaucher CellDisease53
6750535350Nieman PickShingomyelinase Deficiency54
6750537369Nieman PickNeuro Degeneration Cherry Red Spot Hepatosplenomegally55
6750537370Tay SachsNeuro Degeneration Cherry Red Spot Lysosome w/ Onion Skinning56
6750541184KrabbesGalactocerebrisidase Deficiency57
6750543141Tay Sachs (Buildup GM2 Gangliosides)Hexosaminidase A Deficiency58
6750546050Metachomatic LeukodystrophyArylsulfatase A Deficiency59
6750549518Metachomatic LeukodystrophyAtaxia Hypotonia Dementia Lysosomal Storage Disease60
6750552020B100Signal necessary for binding to LDL receptor61
6750556045C2Singal necessary for activation of LPL62
6750557912B48Signal necessary for release of chylomicron from enterocyte63
6750562998Hyper-ChylomicronemiaDisease due to LPL deficiency or bad APOC264
6750564756HyperCholesterolemiaAD disease due to decreased LDL Receptors65
6750570984Alcohol DehdydrogenaseEnzyme that converts ethanol to acetylaldehyde66
6750574919PhenylalanineAA from which tyrosine is made67
6750578643DOPA Dopamine/NE/EPI Melatonin ThyroxinProducts of tyrosine68
6750583279MonoaminesBreakdown product of this is HMA/VMA69
6750585750Breakdown product of tyrosineWhat is homogentisic acid?70
6750590477Buildup of Homogentisitc Acid Dark urine Arthritis Brown sclarae/cartilageAlkaproteinuria71
6750593474TryptophanPrecursor AA for 5HT and Niacin72
67505968365HT breakdown productWhat is 5HIAA73
6750601306Loss of tryptophan in urine leading to niacin deficiency (pellegra)What is Hartnup Disease74
6750604866NO Synthesis Creatinine Urea CycleWhat is arginine used for?75
6750608240Maple Syrup Urine DiseaseAlpha Ketoacid Dehydrogenase deficiency76
6750610248HomocystinuriaLens Dislocation Long Arms/Legs Chest Wall Abnormalities Blood Clots Decreased Folate/B1277
6750619933OTC DeficiencyHigh NH3 Seizure Somnolence N/V High Orotic Acid78
6750622305B1 - ThiamineDeficiency in this leads to Beri Beri79
6750635255B2 - RiboflavinDeficiency in this leads to dermatitis, glossitis, cheilitis, corneal vascularization80
6750638002B3 - NiacinDeficiency in this leads to diarrhea, dermatitis, dementia81
6750642999Niacin - B3This is decreased w/ isoniazid use and hartnup disease82
6750646086B6 - PyridoximeThis is used as a cofactor for aminotransferases, NT synthesis, histamine synthesis, glycogen breakdown, B3 synthesis, and heme synthesis83
6750660748Vitamin ADeficiency in this can cause night blindness, keratization of cornea, and squamous metaplasia84
6750664226Vitamin DOD of this can cause dry skin and liver toxicity85
6750666886Vitamin CThis is important for collagen sytehsis, dopamine synthesis, and iron absorption (convert FE+ to FE3+)86
6750671501Vitamin DThis vitamin increases with sarcoidosis87
6750674673Vitamin EThis is an antioxidant that, when deficient, leads to ataxia, loss of proprioception, and weakness88
6750680335Vitamin KThis vitamin is given at birth89
6750682021ZincDeficiency in this causes poor wound healing, immune dysfunction, hair loss, and anosmia90
6750701076Adenosine Deaminase (SCID cause)This enzyme is important for DNA synthesis...loss will cause low lymphocyte count91
6750711298DNA POL 1Degrades RNA Primer Replace w/ DNA92
6750715372DNA POL 3Elongation of leading strand93
67507305241. GTP -> 40S + tRNA 2. mRNA and 60SInitiation of protein synthesis94
6750741576G1->SJob of p5395
6750744155G1->SJob of phosphorylated RB96
6750747191Rough ERSite of addition of N-linked oligosaccharides to proteins97
6750749250Smooth ERSite of steroid synthesis98
6750750944LysosomeWhat does a mannose 6 phosphate tag added in the Golgi lead to99
6750756355GolgiWhere are O-oligosaccharides added100
6750761296I cell DiseaseDefect in ability of golgi to phosphorylate mannose residues - cannot tag w/ Mannose 6 Phosphate leading to secretion of proteins rather than lysosomal destruction101
6750770421I cell DiseaseCoarse Facial Features Clouded Cornea Restricted Joints High plasma lysosomal levels102
6750773607COPISignals Golgi to ER Trafficking103
6750775844ClathrinGolgi -> Lysosome Plasma Membrane -> Endosome104
6750781338PeroxisomeCatabolism of very long chain FA105
6750787175ProteosomeDegrades ubiquitin tagged proteins106
6751027306ActinMicrofilaments are composed of what?107
6751030606Intermediate FilamentsVimentin, Desmin, Lamins, GFAP make up what?108
6751032766MicrotubulesCilia, Flagella, Mitotic Spindle, Centrioles make up what?109
6751034963CTTissue from which Vimentin is found110
6751034965MuscleTissue from which Desmin is found111
6751037574Epithelial CellsTissue from which Cytokeratin is found112
6751040151NuerogliaTissue from which GFAP is found113
6751043094DyneinRetrograde movement in microtubule114
6751043095KinesinAnterograde movement in microtubule115
6751051001Type ICollagen Tendon116
6751051002Type ICollagen Late wound repair117
6751053920Type ICollagen Dentin/Fascia118
6751053921Type IICollagen cartilage119
6751056886Type IICollagen Nucleus Pulposus120
6751060801Type IIICollagen Uterus and Fetal Tissue121
6751060802type IIICollagen granulation tissue122
6751062881Type IVCollagen BM123
6751062882Type IVCollagen Lens124
6751068068GlycineCollagen is composed 1/3 of this?125
6751069906Vitamin CWhat is required for RER Collagen Hydroxylation126
6751072263OIDefect in glycosylation of collagen127
6751082257Collagen Fibrils DEFECT - ED and Menkes DiseaseCovalent lysine-hydroxylysine cross-linking via copper containing lysyl oxidase makes what?128
6751091306Menkes DiseaseX Linked Imparied copper absorption Decreased lysyl oxidase (copper cofactor) MR, Hypotonia, Brittle Hair129
6751095868ElastinProtein rich in nonhydroxylated proline, glycine and lysine130
6751102565Marfan (defect in fibrilin)Defect in a glycoprotein that forms the sheath around elastin131
6751108182SouthernBlot for DNA132
6751108183NortherBlot for RNA133
6751108184WesternBlot for Protein134
6751111234MicroarrayNucleic aid sequences on grid DNA/RNA probe hybridized to chip Scanner detects complementary binding135
6751116806MicroarrayTest for SNP for genetic testing, cancer mutation, genetic linkage136
6751119820ELISATest to detect presense of specific antigen or AB in blood - especially for HIV137
6751126606HeteroplasmyPresense of both normal and mutated mitochondrial DNA138
6751129883McCune AlbrightMosaicism Disease G-protein signaling Cafe Au Lait Polyostotic Fibrous Dysplasia Preccoious Puberty139
6751140848Loss of HeterozygosityPatient inherits or develops a mutation in tumor suppressor, the complementary allele must be deleted/mutated before cancer140
6751144372PleiotropyOne gene contributes to multiple phenotypic effects (i.e. PKU causes MR, must odor, light skin)141
6751163491Hereditary Hemorrhagic TelangiectasiaEpistaxis AVM GI Bleed142
6751167166CAG CH 4Chromosome/Repeat Huntingtons143
6751175774Cystic FibrosisDeletion of PHE508144
6751175775ATP Gated Cl Channel Cl into Lungs/GI Absorb Cl in SweatCFTR Codes for what145
6751184975Na reabsorptionWhat causes the negative transepithelilal potential difference in CF146
6751192036No vas deferensCause of infertility in CF147
6751197959Frameshift deletion Dystrophin X LinkedCause of Duchenne148
6751204054Connect actin to trannsmembrane protein that are linked to ECMJob of dystrophin149
6751204055BeckerNon-frameshift mutation dystrophin at early adulthood150
6751209117Myotonic Dystrophy Type IAD CTG Repeat expansion DMPK Myotonia Cataracts Frontal Balding Arrhythmia Testicular Atrophy151
6751221311Edwards (18)MR Rocker Bottom Feet Micrognathia Clenched Hands heart Disease Decreased AFP152
6751224715Patau (13)Cleft Lip Holoprosencephaly Microcephaly Rocker Bottom Feet MR153
6751236753Hexokinase Most Body Cells1st Glycolytic Enzyme Low Km and Low Vmax No insulin effect154
6751243028Glucokinase Liver/Beta Cells1st Glycolytic Enzyme High Km and Vmax Insulin Induced155
6751252473Complex VLocation of ATP oxidative phosphorylation in the ETC156
6751254814Complex IVLocation of CN/CO action in the ETC157
6751289756MOA - Block Complex IV TX - Nitrites convert FE2+ to FE3+ which bind CN158

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