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 1 - 10 of 43 in total
Gene ID Gene Symbol Description Source
34 ACADM acyl-CoA dehydrogenase medium chain
38 ACAT1 acetyl-CoA acetyltransferase 1
189 AGXT alanine--glyoxylate aminotransferase
249 ALPL alkaline phosphatase, biomineralization associated
412 STS steroid sulfatase
1120 CHKB choline kinase beta
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
1890 TYMP thymidine phosphorylase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2523 FUT1 fucosyltransferase 1 (H blood group)

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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