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
External Links
Disease Ontology
DOID:9252
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2653 GCSH glycine cleavage system protein H
2752 GLUL glutamate-ammonia ligase
3155 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
4329 ALDH6A1 aldehyde dehydrogenase 6 family member A1
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
Related Glycoprotein

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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