Orphanet: Phenylketonuria
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Phenylketonuria

Disease definition

A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.

ORPHA:716

Classification level: Disorder
  • Synonym(s):
    • PAH deficiency
    • PKU
    • Phenylalanine hydroxylase deficiency
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E70.0  E70.1
  • OMIM: 261600
  • UMLS: C0031485
  • MeSH: D010661
  • GARD: 7383
  • MedDRA: 10034872

Detailed information

Article for general public

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.