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 |