| Metadata | |
|---|---|
| ID | DOID:0111626 |
| Name | D-glyceric aciduria |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20949620 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
D-glycerate kinase deficiency [EXACT] D-glyceric acidemia [EXACT] D-glycericacidemia [EXACT] deficiency of glycerate kinase [EXACT] non ketotic hyperglycinemia syndrome [EXACT] |
| Parent Relationships |