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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003128 | Lactic acidosis |
| HP:0001263 | Global developmental delay |
| HP:0003593 | Infantile onset |
| HP:0002169 | Clonus |
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0003542 | Increased serum pyruvate |
| HP:0001250 | Seizure |
| HP:0002305 | Athetosis |
