Search Ontology:
Human Disease

D-glyceric aciduria

Term ID
DOID:0111626
Synonyms
  • D-glycerate kinase deficiency
  • D-glyceric acidemia
  • D-glycericacidemia
  • deficiency of glycerate kinase
  • non ketotic hyperglycinemia syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/20949620
References
Ontology
Human Disease   ( DOID:0111626 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models