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ZIRC
OBO ID: DOID:3649
Term Name: pyruvate decarboxylase deficiency Search Ontology:
Synonyms:
  • deficiency of pyruvic dehydrogenase
  • pyruvate dehydrogenase complex deficiency disease
  • pyruvate dehydrogenase 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. (3)
References:
Ontology: Human Disease   (DOID:3649)
OTHER pyruvate decarboxylase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DLAT Pyruvate dehydrogenase E2 deficiency 245348
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency 312170
PDHB Pyruvate dehydrogenase E1-beta deficiency 614111
PDHX Lacticacidemia due to PDX1 deficiency 245349
PDP1 Pyruvate dehydrogenase phosphatase deficiency 608782
PHENOTYPE No data available

CITATIONS (2)