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 41 - 50 of 55 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0002069 Bilateral tonic-clonic seizure
HP:0002643 Neonatal respiratory distress
HP:0001348 Brisk reflexes
HP:0001298 Encephalopathy
HP:0002188 Delayed CNS myelination
HP:0000490 Deeply set eye
HP:0001662 Bradycardia
HP:0100703 Tongue thrusting
HP:0002510 Spastic tetraplegia
Displaying 1 entry
Gene ID Gene Symbol Description
132158 GLYCTK glycerate kinase

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024