FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term pyruvate carboxylase deficiency disease ID (Ontology) DOID:3651 (Human Disease)
Definition A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
Also Known As "deficiency of pyruvic carboxylase"
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 pyruvate carboxylase deficiency disease       1
 for disease ribbon | pyruvate carboxylase deficiency disease       1
 model of | pyruvate carboxylase deficiency disease       1
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  inherited metabolic disorder
   |__carbohydrate metabolic disorder
       |__pyruvate carboxylase deficiency disease  1 rec.
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Is a carbohydrate metabolic disorder
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Synonyms
  • "deficiency of pyruvic carboxylase" EXACT
Secondary IDs
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ICD10CM:E74.4
MESH:D015324
MIM:266150
NCI:C85040
SNOMEDCT_US_2023_03_01:87694001
UMLS_CUI:C0034341