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 31 - 40 of 43 in total
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
7086 TKT transketolase
7167 TPI1 triosephosphate isomerase 1
7941 PLA2G7 phospholipase A2 group VII
8658 TNKS tankyrase
8879 SGPL1 sphingosine-1-phosphate lyase 1
23417 MLYCD malonyl-CoA decarboxylase
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase
51179 HAO2 hydroxyacid oxidase 2
54363 HAO1 hydroxyacid oxidase 1

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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