FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pyruvate decarboxylase deficiency ID (Ontology) DOID:3649 (Human Disease)
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.
Also Known As "deficiency of pyruvic dehydrogenase" ; "pyruvate dehydrogenase complex deficiency disease" ; "pyruvate dehydrogenase deficiency"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       2
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 Genes Human Disease Models
 pyruvate decarboxylase deficiency       5      2
 for disease ribbon | pyruvate decarboxylase deficiency       5       --
 model of | pyruvate decarboxylase deficiency       5       --
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  inherited metabolic disorder
   |__carbohydrate metabolic disorder
       |__pyruvate decarboxylase deficiency  7 rec.
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Is a carbohydrate metabolic disorder
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Synonyms
  • "deficiency of pyruvic dehydrogenase" EXACT
    "pyruvate dehydrogenase complex deficiency disease" EXACT
    "pyruvate dehydrogenase deficiency" EXACT
Secondary IDs
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GARD:4620
GARD:7513
ICD10CM:E74.4
MESH:D015325
MIM:245348
MIM:245349
MIM:312170
MIM:608782
MIM:614111
NCI:C103968
ORDO:79243
SNOMEDCT_US_2023_03_01:46683007
UMLS_CUI:C0034345