Phenylketonuria

Inherited metabolic disease

Phenylketonuria is an innate enzymatic defect. Patients suffering from phenylketonuria lack a liver enzyme required for the degradation of the amino acid phenylalanine. High concentrations of the amino acid accumlate inside the bloodstream, eventually leading to toxicity. Symptoms include skin and hair irritations as well as impaired mental development.

Babies are tested for early detection. Affected individuals must avoid foods containing phenylalanine throughout their lives.

Phenylalanine is part of the sweetener aspartame.