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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:0001249 | Intellectual disability |
| HP:0000365 | Hearing impairment |
| HP:0001263 | Global developmental delay |
| HP:0000954 | Single transverse palmar crease |
| HP:0001298 | Encephalopathy |
| HP:0000054 | Micropenis |
| HP:0000490 | Deeply set eye |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000609 | Optic nerve hypoplasia |
