Phenylketonuria

Definition

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

Also known as hyperphenylalaninemia, non-PKU mild, PAH deficiency, phenylalanine hydroxylase deficiency, phenylketonuria, PKU — per MONDO

Also identified as

• DOID 9281 per MONDO
• ICD9 270.1 per MONDO
• MESH D010661 per MONDO
• NCIT C81315 per MONDO
• OMIM 261600 per MONDO
• Orphanet 716 per MONDO
• SCTID 7573000 per MONDO
• UMLS C0031485 per MONDO