Phenylketonuria

Тодорхойлолт

Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.

Дэд ангилал 3

• 5C50.00Classical phenylketonuria›
• 5C50.01Nonclassical phenylketonuria›
• 5C50.02Embryofetopathy due to maternal phenylketonuria›