WormBase Tree Display for DO_term: DOID:3651
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| DOID:3651 | Name | pyruvate carboxylase deficiency disease | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | deficiency of pyruvic carboxylase | |||
| Parent | Is_a | DOID:2978 | |||
| DB_info | Database | OMIM | disease | 266150 | |
| Attribute_of | Gene_by_orthology | WBGene00004258 |
