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Biochemistry- Defective enzyme -Disease(Major signs & symptoms)

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medmaestro's version from 2015-08-19 08:48

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Question Answer
S-Adenosyl homocysteine hydrolase, Glycine N methyl transferase, Methienosyl transferaseonine adHypermethioninemia
ArginaseArginemia
Cystathionine beta synthaseHomocystinuria
Fumarylacetoacetate hydrolaseType 1 Tyrosinemia(Tyrosinosis)
Tyrosine aminotransferasesType 2 Tyrosinemia
para Hydroxyphenylpyruvate hydroxylaseNeonatal Tyrosinemia
Histidine ammonia lyase (histidinase)Histidinemia & Urocanic acidemia
Homogentisate oxidaseAlkaptonuria
Isovaleryl CoA dehydrogenaseIsovaleric acidemia
Branched chain alpha ketoacid decarboxylase complexBranched chain ketonuria (MSUD)
Ornithine delta aminotransferasesOrnithemia, Gyrate atrophy
Phenylalanine hydroxylaseType 1 ,Classic Phenylketonuria
Proline dehydrogenaseType 1 ,Hyperprolinemia
Delta pyrroline 5 carboxylase dehydrogenaseType 2 ,Hyperprolinemia & hyper 4- hydroxyprolinemia
Saccharopine dehydrogenaseSaccharopinuria
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