RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
PC deficiency; PC-RELATED CONDITION; ataxia with lactic acidosis 2; ataxia with lactic acidosis II; deficiency of pyruvic carboxylase; pyruvate carboxylase deficiency; type II ataxia with lactic acidosis
DNA:missense mutations:cds:p.A650T, p.M743I (human) ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency CTD Direct Evidence: marker/mechanism
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