OBO ID: DOID:0111626
Term Name: D-glyceric aciduria Search Ontology:
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 GLYCTK on chromosome 3p21.2. https://www.ncbi.nlm.nih.gov/pubmed/20949620
References:
Ontology: Human Disease   (DOID:0111626)
OTHER D-glyceric aciduria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLYCTK D-glyceric aciduria 220120
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None