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DOID DOID:3649
Name pyruvate decarboxylase deficiency
Definition A 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.
http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract
Xrefs

ICD10CM:E74.4

MESH:D015325

NCI:C103968

OMIM:245348

OMIM:245349

OMIM:312170

OMIM:608782

OMIM:614111

ORDO:79243

SNOMEDCT_US_2016_03_01:124160001

SNOMEDCT_US_2016_03_01:124593001

SNOMEDCT_US_2016_03_01:190761008

SNOMEDCT_US_2016_03_01:46683007

UMLS_CUI:C0034345

Subsets

DO_rare_slim

Synonyms

deficiency of pyruvic dehydrogenase [EXACT]

deficiency of pyruvic dehydrogenase [EXACT]

pyruvate dehydrogenase complex deficiency disease [EXACT]

pyruvate dehydrogenase deficiency [EXACT]

Relationships

is_a carbohydrate metabolic disorder

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