Page created on April 16, 2018. Last updated on March 11, 2020 at 17:40

Disease Affected enzyme(s)
Alkaptonuria Homogentisate 1,2-dioxygenase
Fructosemia Fructose 1-phosphate aldolase
Fructosuria Fructokinase
Phenylketonuria Phenylalanine hydroxylase
Maple syrup urine disease Branched-chain α-ketoacid dehydrogenase complex
Tyrosinemia type I Fumarylacetoacetase
Tyrosinemia type II Tyrosine aminotransferase
Tyorsinemia type III p-hydroxyphenylpyruvate dioxygenase
Homocystinuria Cystathione β-synthase
Hyperargininemia Arginase
Lesch-Nyhan syndrome Hypoxanthine-guanine phosphoribosyltransferase
Argininosuccinate lyase deficiency Argininosuccinate lyase
Βeta-ketothiolase deficiency Acyl-CoA acetyltransferase
Methylmalonic acidemia Methylmalonic-CoA mutase
Propionic acidemia Propionyl-CoA carboxylase
Disease that leads to cataract Aldose reductase with galactose
Galactosemia Galactokinase

Galactose 1-phosphate uridyltransferase

UDP-galactose 4-epimerase

McArdle’s disease Glycogen phosphorylase
Cori’s disease Glucosidase activity of glycogen debranching enzyme
Albinism Tyrosinase

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