carbohydrate metabolic disorder

Summary
Synonym
  • disorder of carbohydrate transport and metabolism
  • inborn carbohydrate metabolism disorder
  • inborn errors of carbohydrate metabolism
Definition
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:2978
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
38 ACAT1 acetyl-CoA acetyltransferase 1
4351 MPI mannose phosphate isomerase
6888 TALDO1 transaldolase 1
7167 TPI1 triosephosphate isomerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
179562 gly-20 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
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: April 7, 2025