D-glyceric aciduria

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease inherited metabolic disorder
External Links
Disease Ontology
DOID:0111626
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
132158 GLYCTK glycerate kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
235582 Glyctk glycerate kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
684314 Glyctk glycerate kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 55 in total
HPO ID HPO Term
HP:0003108 Hyperglycinuria
HP:0001257 Spasticity
HP:0100704 Cerebral visual impairment
HP:0000729 Autistic behavior
HP:0011344 Severe global developmental delay
HP:0002072 Chorea
HP:0000253 Progressive microcephaly
HP:0008288 Nonketotic hyperglycinemia
HP:0001336 Myoclonus
HP:0012444 Brain atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
132158 GLYCTK glycerate kinase

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024