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Amino acid disorders

Diseases of amino acid metabolism

DiseaseExtra substrate / defic enzymewhat'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
Created by: royaltee