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Phenylketonuria

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

sections/codes in this section (5C50.0-5C50.0)

• Classical phenylketonuria  (5C50.00)
• Nonclassical phenylketonuria  (5C50.01)
• Embryofetopathy due to maternal phenylketonuria  (5C50.02)
• Other specified phenylketonuria  (5C50.0Y)
• Phenylketonuria, unspecified  (5C50.0Z)

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