D-glyceric aciduria (DOID:0111626)
Alliance: disease page
Synonyms: D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; deficiency of glycerate kinase; non ketotic hyperglycinemia syndrome
Alt IDs: OMIM:220120, ICD10CM:E72.59, MESH:C535767, ORDO:941, UMLS_CUI:C1291386
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.