D-glyceric aciduria

Summary

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 the GLYCTK gene on chromosome 3p21.2.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: glyctk

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a)