Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
amino acid metabolic disorder

Summary
Synonym
  • inborn errors of amino acid metabolism
Definition
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:9252
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
1491 CTH cystathionine gamma-lyase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2653 GCSH glycine cleavage system protein H
2752 GLUL glutamate-ammonia ligase
3155 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
4144 MAT2A methionine adenosyltransferase 2A
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
5832 ALDH18A1 aldehyde dehydrogenase 18 family member A1
6470 SHMT1 serine hydroxymethyltransferase 1
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
109900 Asl argininosuccinate lyase
110960 Tars1 threonyl-tRNA synthetase 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24513 Ivd isovaleryl-CoA dehydrogenase
63938 Hibadh 3-hydroxyisobutyrate dehydrogenase
140547 Echs1 enoyl-CoA hydratase, short chain 1
687008 Pcca propionyl-CoA carboxylase subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851606 EHD3 mitochondrial 37S ribosomal protein EHD3
853374 ARG2 acetyl-CoA:L-glutamate N-acetyltransferase
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 v4.1.0

Last updated: December 9, 2024