phenylketonuria
amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
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Summary
phenylketonuria is a designated intractable/rare disease[1]. phenylketonuria draws 5,198 Wikipedia views per month (designated intractable rare disease category, ranking #53 of 201).[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Subclass of: enzymopathy[5], hyperphenylalaninemia[6], amino acid metabolic disorder[7]
- Commons category: Phenylketonuria[8]
- External data available at URL: http://www.nanbyou.or.jp/entry/4747[9]
- Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)[10]
- ICD-9-CM: 270.1[11]
- NCI Thesaurus ID: C81315[12]
- Short name: PKU[13], ΦΚΟ[14]
- Health specialty: endocrinology[15]
- Genetic association: PAH[16]
- Exact match: http://purl.obolibrary.org/obo/DOID_9281[17], http://identifiers.org/doid/DOID:9281[18], http://purl.obolibrary.org/obo/MONDO_0009861[19]
- On focus list of Wikimedia project: WikiProject Medicine[20]
Why It Matters
phenylketonuria has Wikipedia articles in 28 language editions, a strong signal of global cultural recognition.[21] phenylketonuria is known by 76 alternative names across languages and contexts.[22]