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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
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23434 | Glycine cleavage system H protein, mitochondrial | |
| P26572 | Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
- The Human Phenotype Ontology
| 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 |
