ornithine carbamoyltransferase deficiency
urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase
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Summary
ornithine carbamoyltransferase deficiency is a rare disease[1]. It draws 681 Wikipedia views per month (rare disease category, ranking #204 of 627).[2]
Key Facts
- Instance of: metabolic syndrome[3], class of disease[4]
- Subclass of: syndromic neurometabolic disease with X-linked intellectual disability[5], urea cycle disorder[6], metabolic syndrome[7]
- Prevalence: 0.00005[8]
- NCI Thesaurus ID: C84957[9]
- Health specialty: medical genetics[10], metabolic syndrome[11], pediatrics[12]
- Genetic association: OTC[13]
- Age of onset: any age[14]
- Exact match: http://purl.obolibrary.org/obo/DOID_9271[15], http://identifiers.org/doid/DOID:9271[16]
- On focus list of Wikimedia project: WikiProject Medicine[17]
- Has phenotype: liver failure[18], splenomegaly[19], hypoglycemia[20], aminoaciduria[21], respiratory alkalosis[22], decreased sucking[23], Q141815134[24], anorexia[25], hypothermia[26], sleep[27], elevated transaminases[28], depression[29], anxiety[30], specific learning disability[31]
- P14914: D00664[32]
Why It Matters
ornithine carbamoyltransferase deficiency has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[33] It is known by 26 alternative names across languages and contexts.[34]