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Summary Literature (0)
DOID:0111626 - D-glyceric aciduria


Disease Ontology 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 GLYCTK on chromosome 3p21.2.

Synonyms: D-glycerate kinase deficiency, D-glyceric acidemia, D-glycericacidemia, deficiency of glycerate kinase, non ketotic hyperglycinemia syndrome

In OMIM:
OMIM:220120 - D-GLYCERIC ACIDURIA


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : glyctk

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a)