6750300535 | Purine | PRPP Plus THF, CO2, GLY, GLU | 0 | |
6750311325 | Ribavarin Mycophenylate | Inhibits IMP -> GMP conversion | 1 | |
6750316594 | HGPRT | Enzyme lacking in Lesch Nyhann | 2 | |
6750321722 | XO | Enzyme for conversion of Hypoxanthine to Xanthine | 3 | |
6750329796 | Pyrimidine | GLU + CO2 -> Carbamoyl Phosphate -> Orotic Acid Orotic Acid + PRPP | 4 | |
6750333397 | Orotic Aciduria | Disease due to inhibition of pyrimidine synthesis...UMP synthase lacking | 5 | |
6750341413 | Thymidylate Synthase | Enzyme blocked by 5FU | 6 | |
6750346262 | MTX TMP Pyramethamine | Drugs that block DHF Reductase | 7 | |
6750348506 | B12 | This catalyzes: Homocystine->Methionine N5M THF -> THF | 8 | |
6750355523 | GLUT1 | Insulin independent glucose transporter in the brain | 9 | |
6750355524 | GLUT4 | Insulin dependent glucose transporter in the fat/muscle | 10 | |
6750359849 | GLUT2 | Insulin independent glucose transporter that is bi-directional - intestine, liver, pancreas | 11 | |
6750365455 | GLUT 5 | Glucose transporter for fructose | 12 | |
6750369602 | Cytoplasm | Location of Glycolysis | 13 | |
6750374705 | Cytoplasm | Location of FA Synthesis | 14 | |
6750376445 | Cytoplasm | Locatino of HMP SHunt | 15 | |
6750376446 | Mitochondria | Location of FA Oxidation | 16 | |
6750378977 | Mitochondria | Location of TCA cycle | 17 | |
6750378978 | Mitochondria | Location of Ketogenesis | 18 | |
6750382268 | Heme Synthesis Urea Cycle Gluconeogenesis | Pathways that occur in both the cytoplasm and mitochondria | 19 | |
6750390500 | Lysosomal Alpha 1,4 Glucosidase | Enzyme deficiency in Pompe Disease | 20 | |
6750392913 | G6 Phosphatase (liver) | Enzyme deficiency in Von Gierke | 21 | |
6750397891 | Debranching Enzyme | Enzyme deficiency in Cori Disease | 22 | |
6750401575 | Glycogen Phospholylase (Muscle) | Enzyme deficiency in McArdle Disease | 23 | |
6750401576 | Von Gierke | Fasting w/o Gluconeogenesis Fasting Hypoglycemia Hepatomegally Lactic Acidosis | 24 | |
6750408460 | Pompe Disease | Normal Blood Glucose Large Tongue Heart Failure Death in Infancy/childhood | 25 | |
6750413622 | Cori Disease | Mild Fasting Hypoglycemia Cardiomyopathy Hepatomegally Hypotonia | 26 | |
6750416936 | McArdle | High glycogen in muscle Cramping w/ exercise Normal blood glucose | 27 | |
6750422865 | Fructokinase | Cause of essential fructosuria (benign fructose in urine) | 28 | |
6750425726 | Aldolase B | Cause of hereditary fructose intolerance | 29 | |
6750428579 | Hereditary Fructose Intolerance | No Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Normal Eyes | 30 | |
6750437719 | G1P Uridyltransferase | Cause of Classic Galactosemia | 31 | |
6750440281 | Classic Galactosemia | No Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Cataracts | 32 | |
6750447360 | Arsenic | Inhibits Lipoic Acid Block Pyruvate Dehydrogenase Garlic Smell | 33 | |
6750451432 | PDH Deficiency | Increased Lactate Increased Alanine X Linked Tx - low carb high fat diet | 34 | |
6750459721 | Malate | This brings NADH electrons from the cytosol to the mitochondria | 35 | |
6750462283 | Complex I | ETC location of NADH Dehydrogenase | 36 | |
6750465350 | Complex II | ETC location of Cuccinate Dehydrogenase (FADH2 enter) | 37 | |
6750467960 | Complex IV | ETC location of H20 Generation | 38 | |
6750475264 | Transketolase | Enzyme that converts Ribose 5P to Ribulose 5P | 39 | |
6750478348 | NADPH | This is required for FA Synthesis and respiratory burst | 40 | |
6750481339 | NADPH Oxidase Deficiency - CGD | Enzyme responsible for converstion of O2 to free radical oxygen | 41 | |
6750487181 | SOD | Enzyme for conversion of free radical O2 to H2O2 | 42 | |
6750489023 | X linked | Inheritance of G6PD Deficiency | 43 | |
6750494641 | Staph Aureus Pseudomonas Serratia Nocardia Aspergillus | Bugs in CGD | 44 | |
6750499922 | Carnitine | Deficiency in this prevents movement of Fatty Acyl CoA's into the mitochondria | 45 | |
6750506158 | MCAD | Deficiency in this leads to high acyl carnitine and decreased blood glucose | 46 | |
6750510675 | ODD CHAIN FA AA Cholesterol | These molecules are converted into propinoyl coA and brought into the TCA via conversion to methylmalonyl CoA | 47 | |
6750520172 | Propinoyl CoA Acidemia Methylmalonic Acidemia | AG Acidosis High NH3 Vomiting Hypotonia | 48 | |
6750521779 | Fabry Disease | Alpha Galactosidase A Deficiency Buildup of Ceramides | 49 | |
6750523950 | Fabry Disease | Slowly progressive disease Hand/Foot Neuropathy Angiokeratomas Renal Failure Hypertrophic CM | 50 | |
6750527729 | Gaucher Disease | Glucocerbrosidase Deficiency Buildup Glucocerebrosides | 51 | |
6750530337 | Gaucher | Hepatosplenomegally Pancytopenia Bruising Avascular Necrosis Bone Crisis | 52 | |
6750532768 | Gaucher Cell | Disease | 53 | |
6750535350 | Nieman Pick | Shingomyelinase Deficiency | 54 | |
6750537369 | Nieman Pick | Neuro Degeneration Cherry Red Spot Hepatosplenomegally | 55 | |
6750537370 | Tay Sachs | Neuro Degeneration Cherry Red Spot Lysosome w/ Onion Skinning | 56 | |
6750541184 | Krabbes | Galactocerebrisidase Deficiency | 57 | |
6750543141 | Tay Sachs (Buildup GM2 Gangliosides) | Hexosaminidase A Deficiency | 58 | |
6750546050 | Metachomatic Leukodystrophy | Arylsulfatase A Deficiency | 59 | |
6750549518 | Metachomatic Leukodystrophy | Ataxia Hypotonia Dementia Lysosomal Storage Disease | 60 | |
6750552020 | B100 | Signal necessary for binding to LDL receptor | 61 | |
6750556045 | C2 | Singal necessary for activation of LPL | 62 | |
6750557912 | B48 | Signal necessary for release of chylomicron from enterocyte | 63 | |
6750562998 | Hyper-Chylomicronemia | Disease due to LPL deficiency or bad APOC2 | 64 | |
6750564756 | HyperCholesterolemia | AD disease due to decreased LDL Receptors | 65 | |
6750570984 | Alcohol Dehdydrogenase | Enzyme that converts ethanol to acetylaldehyde | 66 | |
6750574919 | Phenylalanine | AA from which tyrosine is made | 67 | |
6750578643 | DOPA Dopamine/NE/EPI Melatonin Thyroxin | Products of tyrosine | 68 | |
6750583279 | Monoamines | Breakdown product of this is HMA/VMA | 69 | |
6750585750 | Breakdown product of tyrosine | What is homogentisic acid? | 70 | |
6750590477 | Buildup of Homogentisitc Acid Dark urine Arthritis Brown sclarae/cartilage | Alkaproteinuria | 71 | |
6750593474 | Tryptophan | Precursor AA for 5HT and Niacin | 72 | |
6750596836 | 5HT breakdown product | What is 5HIAA | 73 | |
6750601306 | Loss of tryptophan in urine leading to niacin deficiency (pellegra) | What is Hartnup Disease | 74 | |
6750604866 | NO Synthesis Creatinine Urea Cycle | What is arginine used for? | 75 | |
6750608240 | Maple Syrup Urine Disease | Alpha Ketoacid Dehydrogenase deficiency | 76 | |
6750610248 | Homocystinuria | Lens Dislocation Long Arms/Legs Chest Wall Abnormalities Blood Clots Decreased Folate/B12 | 77 | |
6750619933 | OTC Deficiency | High NH3 Seizure Somnolence N/V High Orotic Acid | 78 | |
6750622305 | B1 - Thiamine | Deficiency in this leads to Beri Beri | 79 | |
6750635255 | B2 - Riboflavin | Deficiency in this leads to dermatitis, glossitis, cheilitis, corneal vascularization | 80 | |
6750638002 | B3 - Niacin | Deficiency in this leads to diarrhea, dermatitis, dementia | 81 | |
6750642999 | Niacin - B3 | This is decreased w/ isoniazid use and hartnup disease | 82 | |
6750646086 | B6 - Pyridoxime | This is used as a cofactor for aminotransferases, NT synthesis, histamine synthesis, glycogen breakdown, B3 synthesis, and heme synthesis | 83 | |
6750660748 | Vitamin A | Deficiency in this can cause night blindness, keratization of cornea, and squamous metaplasia | 84 | |
6750664226 | Vitamin D | OD of this can cause dry skin and liver toxicity | 85 | |
6750666886 | Vitamin C | This is important for collagen sytehsis, dopamine synthesis, and iron absorption (convert FE+ to FE3+) | 86 | |
6750671501 | Vitamin D | This vitamin increases with sarcoidosis | 87 | |
6750674673 | Vitamin E | This is an antioxidant that, when deficient, leads to ataxia, loss of proprioception, and weakness | 88 | |
6750680335 | Vitamin K | This vitamin is given at birth | 89 | |
6750682021 | Zinc | Deficiency in this causes poor wound healing, immune dysfunction, hair loss, and anosmia | 90 | |
6750701076 | Adenosine Deaminase (SCID cause) | This enzyme is important for DNA synthesis...loss will cause low lymphocyte count | 91 | |
6750711298 | DNA POL 1 | Degrades RNA Primer Replace w/ DNA | 92 | |
6750715372 | DNA POL 3 | Elongation of leading strand | 93 | |
6750730524 | 1. GTP -> 40S + tRNA 2. mRNA and 60S | Initiation of protein synthesis | 94 | |
6750741576 | G1->S | Job of p53 | 95 | |
6750744155 | G1->S | Job of phosphorylated RB | 96 | |
6750747191 | Rough ER | Site of addition of N-linked oligosaccharides to proteins | 97 | |
6750749250 | Smooth ER | Site of steroid synthesis | 98 | |
6750750944 | Lysosome | What does a mannose 6 phosphate tag added in the Golgi lead to | 99 | |
6750756355 | Golgi | Where are O-oligosaccharides added | 100 | |
6750761296 | I cell Disease | Defect in ability of golgi to phosphorylate mannose residues - cannot tag w/ Mannose 6 Phosphate leading to secretion of proteins rather than lysosomal destruction | 101 | |
6750770421 | I cell Disease | Coarse Facial Features Clouded Cornea Restricted Joints High plasma lysosomal levels | 102 | |
6750773607 | COPI | Signals Golgi to ER Trafficking | 103 | |
6750775844 | Clathrin | Golgi -> Lysosome Plasma Membrane -> Endosome | 104 | |
6750781338 | Peroxisome | Catabolism of very long chain FA | 105 | |
6750787175 | Proteosome | Degrades ubiquitin tagged proteins | 106 | |
6751027306 | Actin | Microfilaments are composed of what? | 107 | |
6751030606 | Intermediate Filaments | Vimentin, Desmin, Lamins, GFAP make up what? | 108 | |
6751032766 | Microtubules | Cilia, Flagella, Mitotic Spindle, Centrioles make up what? | 109 | |
6751034963 | CT | Tissue from which Vimentin is found | 110 | |
6751034965 | Muscle | Tissue from which Desmin is found | 111 | |
6751037574 | Epithelial Cells | Tissue from which Cytokeratin is found | 112 | |
6751040151 | Nueroglia | Tissue from which GFAP is found | 113 | |
6751043094 | Dynein | Retrograde movement in microtubule | 114 | |
6751043095 | Kinesin | Anterograde movement in microtubule | 115 | |
6751051001 | Type I | Collagen Tendon | 116 | |
6751051002 | Type I | Collagen Late wound repair | 117 | |
6751053920 | Type I | Collagen Dentin/Fascia | 118 | |
6751053921 | Type II | Collagen cartilage | 119 | |
6751056886 | Type II | Collagen Nucleus Pulposus | 120 | |
6751060801 | Type III | Collagen Uterus and Fetal Tissue | 121 | |
6751060802 | type III | Collagen granulation tissue | 122 | |
6751062881 | Type IV | Collagen BM | 123 | |
6751062882 | Type IV | Collagen Lens | 124 | |
6751068068 | Glycine | Collagen is composed 1/3 of this? | 125 | |
6751069906 | Vitamin C | What is required for RER Collagen Hydroxylation | 126 | |
6751072263 | OI | Defect in glycosylation of collagen | 127 | |
6751082257 | Collagen Fibrils DEFECT - ED and Menkes Disease | Covalent lysine-hydroxylysine cross-linking via copper containing lysyl oxidase makes what? | 128 | |
6751091306 | Menkes Disease | X Linked Imparied copper absorption Decreased lysyl oxidase (copper cofactor) MR, Hypotonia, Brittle Hair | 129 | |
6751095868 | Elastin | Protein rich in nonhydroxylated proline, glycine and lysine | 130 | |
6751102565 | Marfan (defect in fibrilin) | Defect in a glycoprotein that forms the sheath around elastin | 131 | |
6751108182 | Southern | Blot for DNA | 132 | |
6751108183 | Norther | Blot for RNA | 133 | |
6751108184 | Western | Blot for Protein | 134 | |
6751111234 | Microarray | Nucleic aid sequences on grid DNA/RNA probe hybridized to chip Scanner detects complementary binding | 135 | |
6751116806 | Microarray | Test for SNP for genetic testing, cancer mutation, genetic linkage | 136 | |
6751119820 | ELISA | Test to detect presense of specific antigen or AB in blood - especially for HIV | 137 | |
6751126606 | Heteroplasmy | Presense of both normal and mutated mitochondrial DNA | 138 | |
6751129883 | McCune Albright | Mosaicism Disease G-protein signaling Cafe Au Lait Polyostotic Fibrous Dysplasia Preccoious Puberty | 139 | |
6751140848 | Loss of Heterozygosity | Patient inherits or develops a mutation in tumor suppressor, the complementary allele must be deleted/mutated before cancer | 140 | |
6751144372 | Pleiotropy | One gene contributes to multiple phenotypic effects (i.e. PKU causes MR, must odor, light skin) | 141 | |
6751163491 | Hereditary Hemorrhagic Telangiectasia | Epistaxis AVM GI Bleed | 142 | |
6751167166 | CAG CH 4 | Chromosome/Repeat Huntingtons | 143 | |
6751175774 | Cystic Fibrosis | Deletion of PHE508 | 144 | |
6751175775 | ATP Gated Cl Channel Cl into Lungs/GI Absorb Cl in Sweat | CFTR Codes for what | 145 | |
6751184975 | Na reabsorption | What causes the negative transepithelilal potential difference in CF | 146 | |
6751192036 | No vas deferens | Cause of infertility in CF | 147 | |
6751197959 | Frameshift deletion Dystrophin X Linked | Cause of Duchenne | 148 | |
6751204054 | Connect actin to trannsmembrane protein that are linked to ECM | Job of dystrophin | 149 | |
6751204055 | Becker | Non-frameshift mutation dystrophin at early adulthood | 150 | |
6751209117 | Myotonic Dystrophy Type I | AD CTG Repeat expansion DMPK Myotonia Cataracts Frontal Balding Arrhythmia Testicular Atrophy | 151 | |
6751221311 | Edwards (18) | MR Rocker Bottom Feet Micrognathia Clenched Hands heart Disease Decreased AFP | 152 | |
6751224715 | Patau (13) | Cleft Lip Holoprosencephaly Microcephaly Rocker Bottom Feet MR | 153 | |
6751236753 | Hexokinase Most Body Cells | 1st Glycolytic Enzyme Low Km and Low Vmax No insulin effect | 154 | |
6751243028 | Glucokinase Liver/Beta Cells | 1st Glycolytic Enzyme High Km and Vmax Insulin Induced | 155 | |
6751252473 | Complex V | Location of ATP oxidative phosphorylation in the ETC | 156 | |
6751254814 | Complex IV | Location of CN/CO action in the ETC | 157 | |
6751289756 | MOA - Block Complex IV TX - Nitrites convert FE2+ to FE3+ which bind CN | 158 |
BIOCHEMISTRY Flashcards
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