Diseases - Enzyme Deficiencies Flashcards
BCKDH (cofactors B1, B3, B5) + BCAA
MSUD (enzyme + AA)
Glycine cleavage system (B3, B9) + glycine
Non ketotic hyperglycinemia (enzyme + AA
Glutaric Acidura Type I (amino acid)
Tryptophan
Non-ketotic hyperglycinemia (amino acid)
Glycine
A-ketoacidipic dehydrogenase + tryptophan
A-ketoacidpic acidura (enzyme + AA)
Arginase (elevated arginine)
Hyperarginemia (enzyme + metabolite)
Methylmalanonic CoA mutase (B12, MET donors) + threonine
Methylmalonic academia (enzyme + AA)
Arginiosuccinase or arginiosuccinate lyase (elevated arginiosuccinate)
Argininosuccinicaciduria (enzyme + metabolite)
Argininosuccinate synthetase (excess citrulline excretion)
Citrullemia (enzyme + metabolite)
Phosphoserine phosphatase + serine
William Beuren Syndrome (WBS) (enzyme + AA)
a-ketoacidipic aciduria (amino acid)
Tryptophan
Carbamoyl phosphate synthase (elevated ammonia)
Hyperammonemia Type I (enzyme + metabolite)
Tyrosinemia (Type II) - Richer-Hanhart + tyrosine
Tyrosine transaminase (disease + AA)
Propionyl CoA carboxylase (B7, MET donors) + threonine
Propionic academia (enzyme + AA)
Histidase + histidine
Histidemia (enzyme + AA)
Neonatal tyrosinemia + tyrosine
P-hydroxyphenylpyruvate hydrooxylase (disease + AA)
Homgentisate oxidase + tyrosine
Alkaptonuria (enzyme + AA)
Tyrosinemia (Type I) + tyrosine
Fumarylacetoacetate hydroxylase (disease + AA)
Ornithine transcarbamoylase (elevated glutamine)
Hyperammonia Type II (enzyme + metabolite)
Cystathionine B synthase + methionine
Homocystinuria (enzyme + AA)
Glutaryl CoA dehydrogenase + tryptophan
Glutamic Acidura Type I (enzyme + AA)
