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pyruvate carboxylase deficiency disease
Summary
- Synonym
-
- deficiency of pyruvic carboxylase
- 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.
- Super Class
- carbohydrate metabolic disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16822 | Phosphoenolpyruvate carboxykinase [GTP], mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002151 | Increased circulating lactate concentration |
| HP:0003577 | Congenital onset |
| HP:0001252 | Hypotonia |
| HP:0002415 | Leukodystrophy |
| HP:0001249 | Intellectual disability |
| HP:0003348 | Hyperalaninemia |
| HP:0001943 | Hypoglycemia |
| HP:0006970 | Periventricular leukomalacia |
| HP:0002240 | Hepatomegaly |
| HP:0000007 | Autosomal recessive inheritance |
