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 |