Citrullinema

Arginosuccinate lyase

Lethargy, seizures, reduced muscle tension

Tyrosinemia

Various enzymes of tyrosine degradation

Weakness, 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