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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:0002120 | Cerebral cortical atrophy |
| HP:0001508 | Failure to thrive |
| HP:0011344 | Severe global developmental delay |
| HP:0100704 | Cerebral visual impairment |
| HP:0008288 | Nonketotic hyperglycinemia |
| HP:0012444 | Brain atrophy |
| HP:0002154 | Hyperglycinemia |
| HP:0007185 | Loss of consciousness |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002448 | Progressive encephalopathy |
