Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. [ ]

Synonyms: phenylalanine hydroxylase deficiency phenylalaninemia Følling's disease classical phenylketonuria maternal phenylketonuria PKU phenylketonuria PAH deficiency Folling's disease

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10034872 (Orphanet:716)
  • SCTID:7573000 (MONDO:equivalentTo)
  • Orphanet:716 (OMIM:261600)
  • GARD:0007383 (Orphanet-shared)
  • UMLS:C0031485 (Orphanet:716)
  • ICD10:E70.0 (Orphanet:716)
  • ICD10:E70.1 (Orphanet:716)
  • NCIT:C81315 (MONDO:kboom-pr-0.91/0.77/0.63)
  • DOID:9281 (MONDO:equivalentTo)
  • MESH:D010661 (Orphanet:716)
  • ICD9:270.1 (DOID:9281)
  • OMIM:261600 (Orphanet:716)

ordo_disease, clingen



has related synonym

Pah deficiency

phenylketonuria; PKU

phenylpyruvic oligophrenia

oligophrenia phenylpyruvica

hyperphenylalaninemia, non-PKU mild

phenylketonuria, maternal

oligophrenia Phenylpyruvica

Folling disease

folling's syndrome

imbecilitus phenylpyruvica

HPA, non-PKU mild

pah deficiency