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Amino acid disorders
Diseases of amino acid metabolism
Disease | Extra substrate / defic enzyme | what's missing |
---|---|---|
tyrosinemia | P-hydroxy phenyl pyruvate b/c no fumaryacetoacetate hydrolase; Toxic siccinylacetone & tyrosyl compounds build-up | 2S-dihyroxy phenyl pyruvate |
alkaptoneuria | homogentistic acid* (toxic) b/c no homogentistic acid oxidase | Oxidation of homogentistic acid into H20 and C02 |
goitrous cretinism | tyrosine | thyroxine and trioodothronine hormones |
albinism | 3,4-dyhydroxyphenylalanine (DOPA) b/c no tyrosinase | melanin |
phenylketonuria | excess phenylalanine b/c no phenylalanine hydroxlase. Build up of phenyl acetate, p. lactate, p ethylamine, etc | tyrosine |