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Summary Literature (0)
DOID:3651 - pyruvate carboxylase deficiency disease


Disease Ontology 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.

Synonyms: deficiency of pyruvic carboxylase

In OMIM:
OMIM:266150 - PYRUVATE CARBOXYLASE DEFICIENCY

In Mondo Disease Ontology:
MONDO:0009949 - pyruvate carboxylase deficiency disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pc.1, pc.2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): carbohydrate metabolic disorder (is_a)