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D-glyceric aciduria
Summary
- Synonym
-
- D-glycerate kinase deficiency
- D-glyceric acidemia
- D-glycericacidemia
- deficiency of glycerate kinase
- non ketotic hyperglycinemia syndrome
- Definition
- An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
- Super Class
- autosomal recessive disease inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111626
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012736 | Profound global developmental delay |
| HP:0003108 | Hyperglycinuria |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0003593 | Infantile onset |
| HP:0002188 | Delayed CNS myelination |
| HP:0002521 | Hypsarrhythmia |
| HP:0002133 | Status epilepticus |
| HP:0003623 | Neonatal onset |
| HP:0002266 | Focal clonic seizure |
| HP:0008936 | Axial hypotonia |
