has material basis in germline mutation in GLYCTK D-glyceric aciduria https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/d_glyceric_aciduria UMLS:C0342765 NCIT:C128804 OMIM:220120 MESH:C535767 A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. MEDGEN:452447 DOID:0111626 D-glycerate kinase deficiency Orphanet:941 d-glyceric aciduria MONDO:0009070 SCTID:237980004 non ketotic hyperglycinemia syndrome D-glyceric acidemia glycerate kinase deficiency D-glycericacidemia GARD:0000234 disorder of glyoxylate metabolism disorder of galactose and fructose metabolism