pyruvate decarboxylase deficiency
carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex
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Summary
pyruvate decarboxylase deficiency is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- pyruvate decarboxylase deficiency's instance of is recorded as developmental defect during embryogenesis[3].
- pyruvate decarboxylase deficiency's instance of is recorded as rare disease[4].
- pyruvate decarboxylase deficiency's instance of is recorded as class of disease[5].
- pyruvate decarboxylase deficiency is a type of carbohydrate metabolic disorder[6].
- pyruvate decarboxylase deficiency's ICD-9-CM is recorded as 277.6[7].
- pyruvate decarboxylase deficiency's NCI Thesaurus ID is recorded as C103968[8].
- pyruvate decarboxylase deficiency's health specialty is recorded as endocrinology[9].
- pyruvate decarboxylase deficiency's genetic association is recorded as PDHA1[10].
- pyruvate decarboxylase deficiency's genetic association is recorded as PDHB[11].
- pyruvate decarboxylase deficiency's genetic association is recorded as DLAT[12].
- pyruvate decarboxylase deficiency's genetic association is recorded as PDP1[13].
- pyruvate decarboxylase deficiency's genetic association is recorded as PDX1[14].
- pyruvate decarboxylase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_3649[15].
- pyruvate decarboxylase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:3649[16].
- pyruvate decarboxylase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_765[17].
- pyruvate decarboxylase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79243[18].
- pyruvate decarboxylase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
pyruvate decarboxylase deficiency has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2] It is known by 14 alternative names across languages and contexts.[20]