ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 — Inborn errors of amino acid or other organic acid metabolism
5C50.0 — Phenylketonuria
ICD-11 5C50.0 — Phenylketonuria
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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
Diagnosis with code 5C50.0 contains 5 clarifying diagnoses:
- 5C50.00 — Classical phenylketonuria
- 5C50.01 — Nonclassical phenylketonuria
- 5C50.02 — Embryofetopathy due to maternal phenylketonuria
- 5C50.0Y — Other specified phenylketonuria
- 5C50.0Z — Phenylketonuria, unspecified
The diagnosis is coded elsewhere: