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Standards Ontologies Notations
methylmalonic acidemia

Summary
Synonym
  • methylmalonic aciduria
Definition
An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Super Class
organic acidemia
Disease Ontology
DOID:14749
Mondo Disease Ontology
MeSH
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4594 MMUT methylmalonyl-CoA mutase
84693 MCEE methylmalonyl-CoA epimerase
326625 MMAB metabolism of cobalamin associated B
Displaying 1 entry
Gene ID Gene Symbol Description Source
17850 Mmut methylmalonyl-Coenzyme A mutase
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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: December 9, 2024