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 21 - 30 of 43 in total
Gene ID Gene Symbol Description Source
3074 HEXB hexosaminidase subunit beta
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
3425 IDUA alpha-L-iduronidase
3931 LCAT lecithin-cholesterol acyltransferase
3945 LDHB lactate dehydrogenase B
4360 MRC1 mannose receptor C-type 1
4594 MMUT methylmalonyl-CoA mutase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5321 PLA2G4A phospholipase A2 group IVA

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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