Term
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Definition
| Rate controlling enzyme of mevalonate pathway - makes cholesterol, target of statins |
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Term
| Glucose 6-P Dehydrogenase |
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Definition
| Maintains level of NADPH -> glutathione -> fatty acids. Maintains RBCs. Deficiency (infection, fava beans, AAA, antibiotics, antipyretics, and antimalarials). |
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Term
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Definition
| Methylmalonyl CoA + B12 into Succinyl CoA. Deficiency = methyl melonic acidemia. (Aut.Rec.) |
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Term
| UDP-Glucuronyltransferase |
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Definition
| catalyzes glucuronidation to make substances more water soluble/easier to absorb/excrete.Crigler-Najjar type I:enzyme is completely absent. Type II: <10% of normal |
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Term
| Homocysteine Methyltransferase |
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Definition
| converts homocysteine to methionine (sulfur-containing proteinogenic amino acid, improper conversion = atherosclerosis) |
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Term
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Definition
| converts dihydrofolate into tetrahydrofolate,purines, thymidylic acid, and certain amino acids. |
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Term
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Definition
purine metabolism, salvages purines from degraded DNA for renewed purine synthesis, catalyst in the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP.
Def. = Lesch-Nyhan/Juvenile Gout |
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Term
| Branched chain keto acid dehydrogenase |
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Definition
| responsible for the degradation of the branched chain amino acids. Inhibition = build up of BCAAs (leucine, isoleucine, and valine)= maple syrup urine disease (infants, brain damage, death) |
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Term
| Gamma-glutamyl carboxylase |
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Definition
| Oxidizes Vitamin K hydroquinone to Vitamin K 2,3 epoxide. Adds CO2 to protein-bound glutamic acid to form gamma-carboxyglutamic acid. Gene Mutations = vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. |
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Term
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Definition
| catalyzes the oxidation of hypoxanthine to xanthine, oxidation of xanthine to uric acid, catabolism of purines. Found in liver - released in liver damage. Allopurinol = xanthine oxidase inhibitor. Deficiency leads to high concentration of xanthine in blood and can cause renal failure. |
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Term
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Definition
| Autolysin enzyme involved in the hydrolysis of several molecules containing hexose. Deficiency = inability to properly hydrolyze certain sphingolipids, causing these lipids to accumulate over time in lysosomes = Tay Sachs & Sandhoff disease. |
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Term
| Galactose-1-phosphate uridyl transferase |
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Definition
| converts galactose to glucose. Deficiency may be serious: mental retardation, slow growth, cataracts, hepatomegaly. Limit lactose. |
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Term
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Definition
| Transforms pyruvate into acetyl-CoA (used in the citric acid cycle to carry out cellular respiration). Links the glycolysis metabolic pathway to the citric acid cycle and releasing energy via FADH2.Def = low energy, lactate buildup, lactic acidosis in newborns: severe lethargy, poor feeding, tachypnea, death |
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Term
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Definition
| catalyzes irreversible carboxylation of acetyl-CoA -> malonyl-CoA (for the biosynthesis of fatty acids). Target of anti-obesity and antibiotic drugs. |
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Term
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Definition
| Intracellular neutral lipase, hydrolyzes esters, hydrolyzes stored triglycerides to free fatty acids (short form in adipose), converts cholesteryl esters to free cholesterol for steroid hormone production (long form in testes). |
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