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Biochemistry - top enzymes

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cytosolic HMG -CoA>mevalonate (cholesterol syn),cholesterol and bile salts -,insulin +, use statins to inhibit activity in tx of high cholesterol
HMG CoA reductase
homocysteine>methionine (B12),homocystinuria(mental retardation,osteoporosis,lens dislocation,CVD)
Homocysteine Methyl Transferase (methionine synthetase)
methylmalonyl CoA>succinyl CoA (B12),propionic acid pathway:Valine,isoleucine,methionine,threonine and odd chain FA, neonatal ketoacidosis
Methylmalonyl CoA mutase
bilirubin(uncon/indir)>biliruben diglucuronide(con/dir)(liver), inc. uncon/indir:jaundice, kernicterus, conditions: hemolysis, Crigler-Najjar, Gilbert's, physiologic jaundice(newborns)
UDP-Glucuronyl transferase
folate>DHF>THF (purine/thymidine syn), Folate def:Megaloblastic anemia,homocystinemia Methotrexate (antineoplastic) -
Dihydrofolate reductase
hypoxanthine>xanthine(molybdenum),xanthine>uric acid (purine syn),inc: gout,allopurinol -
Xanthine oxidase
cotransitional modification introduces Ca+ binding sites on Ca dependent proteins (factors II,VII,IX,X, C & S)through gamma carboxylation of glutamyl residues (Vitamin K dependent)
Gamma-glutyl carboxylase
pyruvate>acetyl CoA (thiamine dependent) insulin+, alcoholics thiamine deficient=lactic acidosis bc no acetyl CoA
Pyruvate Dehydrogenase
rate limiting enzyme, insulin & NADP +,NADPH -, regulates NADPH produced in PPP, NADPH = biosynthesis FA, chol, and nucleotide, kills bacteria(PMN), and removes free radicals(Glutathione dependent), hemolytic anemia, heinz body
G6PD
sphingolipid catabolism, Tay-Sachs(inc ganglioside GM2)=cherry red spots, blindness, psychomotor retardation, death <2yrs
Hexominadase A

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