pyruvate carboxylase deficiency disease
Information
- Disease name
- pyruvate carboxylase deficiency disease
- Disease ID
- DOID:3651
- Description
- "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." [url:http\://omim.org/entry/266150, url:https\://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01461304 | No longer available | Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism |
- Disase is a (Disease Ontology)
- DOID:2978
- Cross Reference ID (Disease Ontology)
- ICD10CM:E74.4
- Cross Reference ID (Disease Ontology)
- MESH:D015324
- Cross Reference ID (Disease Ontology)
- MIM:266150
- Cross Reference ID (Disease Ontology)
- NCI:C85040
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:87694001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0034341
- Exact Synonym (Disease Ontology)
- deficiency of pyruvic carboxylase
- MeSH unique ID (MeSH (Medical Subject Headings))
- D015324