NCIthesaurus has symptom disease has feature carbohydrate metabolic disorder pyruvate carboxylase deficiency disease MIM:266150 UMLS_CUI:C0034341 SNOMEDCT_US_2025_09_01:87694001 ICD10CM:E74.4 MESH:D015324 disease_ontology 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. DOID:3651 NCI:C85040 OMIM mapping confirmed by DO. [SN]. deficiency of pyruvic carboxylase seizure failure to thrive