The coloration of the skin, hair, and eyes is different in children with PKU. This is caused by low levels of tyrosine, whose metabolic pathway is blocked by deficiency of PAH. Another skin alteration that might occur is the presence of irritation or dermatitis. The child's behaviour may be influenced as well due to augmented levels of phenethylamine which in turn affects levels of other amines in the brain. Psychomotor function may be affected and observed to worsen progressively.
Hyperphenylalaninemia
Hypertryptophanemia
Hypermethioninemia
Hyperammonemia
Hypervalinemia
Histidinemia
Isovaleric acidemia
Hyperlysinemia