inherited metabolic disorder

Summary
Synonym
  • Inborn Errors of Metabolism
  • Metabolic hereditary disorder
  • inborn metabolism disorder
Definition
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Super Class
disease of metabolism genetic disease
External Links
Disease Ontology
DOID:655
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 43 in total
Gene ID Gene Symbol Description Source
2539 G6PD glucose-6-phosphate dehydrogenase
2542 SLC37A4 solute carrier family 37 member 4
2584 GALK1 galactokinase 1
2592 GALT galactose-1-phosphate uridylyltransferase
2639 GCDH glutaryl-CoA dehydrogenase
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
2819 GPD1 glycerol-3-phosphate dehydrogenase 1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3073 HEXA hexosaminidase subunit alpha

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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