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
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.
DOID:0111626
D-glycerate kinase deficiency
Orphanet:941
d-glyceric aciduria
MONDO:0009070
GARD:234
SCTID:237980004
non ketotic hyperglycinemia syndrome
D-glyceric acidemia
glycerate kinase deficiency
D-glycericacidemia
disorder of glyoxylate metabolism
disorder of galactose and fructose metabolism