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 11 - 20 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001298 Encephalopathy
HP:0000752 Hyperactivity
HP:0002154 Hyperglycinemia
HP:0001254 Lethargy
HP:0100247 Recurrent singultus
HP:0001250 Seizure
HP:0001347 Hyperreflexia
HP:0000718 Aggressive behavior
HP:0001274 Agenesis of corpus callosum
Displaying 1 entry
Gene ID Gene Symbol Description
2731 GLDC glycine decarboxylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024