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pyruvate carboxylase deficiency disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Uniprot Description Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009949:  pyruvate carboxylase deficiency disease
EFO:1001142: 
GARD:0007512: 
MESH:D015324: 
NCIT:C85040: 
Orphanet:3008: 
SCTID:87694001: 
UMLS:C0034341: 
UMLS:C2931141: 
UMLS:CN203409: