About   Help   FAQ
Disease Ontology Browser
pyruvate carboxylase deficiency disease (DOID:3651)
Alliance: disease page
Synonyms: deficiency of pyruvic carboxylase
Alt IDs: OMIM:266150, ICD10CM:E74.4, MESH:D015324, NCI:C85040, UMLS_CUI:C0034341
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory