glycine encephalopathy

Summary
Synonym
  • Non-ketotic hyperglycinemia
  • nonketotic hyperglycinemia
Definition
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Super Class
amino acid metabolic disorder
External Links
Disease Ontology
DOID:9268
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
275 AMT aminomethyltransferase
2653 GCSH glycine cleavage system protein H
2731 GLDC glycine decarboxylase
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
7357 UGCG UDP-glucose ceramide glucosyltransferase
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
132158 GLYCTK glycerate kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0001252 Hypotonia
HP:0001522 Death in infancy
HP:0000737 Irritability
HP:0100710 Impulsivity
HP:0001290 Generalized hypotonia
HP:0000711 Restlessness
HP:0001336 Myoclonus
HP:0001249 Intellectual disability
HP:0003108 Hyperglycinuria
HP:0001265 Hyporeflexia
Displaying 1 entry
Gene ID Gene Symbol Description
2731 GLDC glycine decarboxylase

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