 |
| Disease | Enzyme deficiency | Symptoms |
|---|---|---|
| Citrullinema | Arginosuccinate lyase | Lethergy, siezures, reduced muscle tension |
| Tyrosinemia | Various enzymes of tyrosine degradation | Weakness, self-mutilation, liver damage, mental retardation |
| Albinism | Tyrosinase | Absence of pigmentation |
| Homocystinuria | Cystathionine β-synthase | Scoliosis, muscle weakness, mental retardation, thin blond hair |
| Hyperlysinemia | α-Aminoadipic semialdehyde dehydrogenase | Seizures, mental retardation, lack of muscle tone, ataxia |