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Intro to Enzymes
Uhler
15
Medical
Professional
09/14/2012

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Term
Delta G
Definition
-RTln[Keq]
Term
Keq
Definition
= products/reactants = kf/kr
Term
Vitamin B12 deficiency
Definition
disease: anemia
coenzyme: cobalamin coenzymes
reaction: alkylation
Term
Vitamin B12 deficiency
Definition
disease: anemia
coenzyme: cobalamin coenzymes
reaction: alkylation
Term
nicotinamide deficiency
Definition
disease: pellagra
coenzyme: nicotinamide coenzymes
reaction: oxidation-reduction
Term
folic acid deficiency
Definition
disease: anemia
coenzyme: tetrahydrofolate
reaction mechanism: one-carbon group transfer
Term
thiamine (B1) deficiendy
Definition
disease: beriberi
coenzyme: thiamine pyrophosphate
reaction: aldehyde transfer
Term
Newborn Screening
Definition
MS/MS used to measure the amounts of two different groups of metabolites:
acylcarnitines and amino acids
Term
Phenylalanine Hydroxylase
Definition
Oxidoreductases (Oxidation-Reduction)
Disease: Phenylketonuria
MS/MS Result: elevated phenylalanine, increased phenylalanine to tyrosine ratio
Treatment: diet low in phenylalanine
Cofactors: tetrahydrobiopterin, Fe(II)
Term
tetrahydrobiopterin
Definition
-not a vitamin
-coenzyme (helps split O-O bond and takes 1 O atom, the other goes transiently to the Fe and ultimately to the ring structure)
Term
Carnitine palmitoyl transferase I
Definition
Transferase (transfer of a functional group
Necessary for fatty acid transport into the mitochondria for oxidation.
Disease: carnitine palmitoyl transferase deficiency type I
MS/MS result: increased ratio of free carnitine to C16:0 and C18:0 acylcarnitines
Treatment: prevent prolonged fasting, make sure glucose is always available as energy source
Term
Arginase
Definition
Hydrolases (Hydrolysis of Various Bonds)
Part of the urea cycle, cleaves arginine to urea and ornithine
Disease: arginemia
MS/MS result: arginine levels elevated 5- to 10-fold
Treatment: dietary restriction of protein, dialysis to clear ammonia
Term
Cystathione Beta Synthase
Definition
Lyases (Bond cleavage other than oxidation or hydrolysis)
necessary for cysteine biosynthesis; enzyme requires PLP, a coenzyme derived from vitamin B6
Cofactor: pyridoxal phosphate (PLP) derived from vit B6
Disease: homocystinuria
MS/MS result: elevated levels of methionine and homocysteine
Tretment: methionine-restricted and cysteine-supplemented diet; large doses of vitamin B6
Term
Methylmalonyl-CoA Mutase
Definition
Isomerase (intramolecular changes)
Cofactor: AdoCbl, derived from vitamin B12, reversible free radical generator
Disease: methylmalnic acidemia
MS/MS result: elevated C3-carnitine and C4 (methylmalonyl)-carnitine, elevated methylmalonylic acid
Treatment: low-protein diet, restriction of branched AAs, carnitine supplement
Term
Arginosuccinate Synthetase
Definition
Ligases (Ligation accompanied by ATP hydrolysis)
part of the urea cycle
Disease: citrullinemia
MS/MS result: up to 100x the normal level of citrulline
Treatment: protein-restrictive diet, arginine supplementation, dialysis to clear ammonia
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