Term Name: | D-glyceric aciduria |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111626] ( DOID:0111626 ) |