| Metadata | |
|---|---|
| ID | DOID:3651 |
| Name | pyruvate carboxylase deficiency disease |
| 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. https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency, http://omim.org/entry/266150 |
| Xrefs |
SNOMEDCT_US_2023_03_01:87694001 |
| Subsets |
NCIthesaurus |
| Synonyms |
deficiency of pyruvic carboxylase [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some failure to thrive has symptom some seizure disease has feature some pyruvate carboxylase deficiency disease |