Term
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Definition
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Term
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Definition
| = products/reactants = kf/kr |
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Term
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Definition
disease: anemia
coenzyme: cobalamin coenzymes
reaction: alkylation |
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Term
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Definition
disease: anemia
coenzyme: cobalamin coenzymes
reaction: alkylation |
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Term
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Definition
disease: pellagra
coenzyme: nicotinamide coenzymes
reaction: oxidation-reduction |
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Definition
disease: anemia
coenzyme: tetrahydrofolate
reaction mechanism: one-carbon group transfer |
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Definition
disease: beriberi
coenzyme: thiamine pyrophosphate
reaction: aldehyde transfer |
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Term
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Definition
MS/MS used to measure the amounts of two different groups of metabolites:
acylcarnitines and amino acids |
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Term
| Phenylalanine Hydroxylase |
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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) |
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Term
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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) |
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Term
| Carnitine palmitoyl transferase I |
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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 |
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Term
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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 |
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Term
| Cystathione Beta Synthase |
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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 |
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Term
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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 |
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Term
| Arginosuccinate Synthetase |
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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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