pyruvate carboxylase deficiency disease
Human disease
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Summary
pyruvate carboxylase deficiency disease is a rare disease[1]. It ranks in the top 1% of rare disease entities by monthly Wikipedia readership (87 views/month).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: carbohydrate metabolic disorder[4], genetic disease[5]
- ICD-9-CM: 277.89[6]
- NCI Thesaurus ID: C85040[7]
- Health specialty: endocrinology[8]
- Genetic association: PC[9]
- Age of onset: infantile onset[10], neonatal onset[11]
- Exact match: http://purl.obolibrary.org/obo/DOID_3651[12], http://identifiers.org/doid/DOID:3651[13], http://www.orpha.net/ORDO/Orphanet_3008[14]
- On focus list of Wikimedia project: WikiProject Medicine[15]
- Has phenotype: Elevetated blood lactate[16], failure to thrive[17], Elevated brain choline level by MRS[18], pathologic nystagmus[19], apathy[20], Q141815216[21], neonatal hyperbilirubinemia[22], Q141815644[23], pyramidal sign[24], delayed myelination[25], coma[26]
- P14914: D03008[27]
Why It Matters
pyruvate carboxylase deficiency disease is known by 15 alternative names across languages and contexts.[28]