3-methylglutaconic aciduria

Summary
Definition
An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
Super Class
organic acidemia
External Links
Disease Ontology
DOID:0060336
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
36 ACADSB acyl-CoA dehydrogenase short/branched chain
1717 DHCR7 7-dehydrocholesterol reductase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
55750 AGK acylglycerol kinase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P30084 Enoyl-CoA hydratase, mitochondrial
Q9UBM7 7-dehydrocholesterol reductase

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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