3-methylglutaconic aciduria

Term ID

DOID:0060336

Synonyms

Definition

An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria

References

ICD10CM:E71.111
MESH:C579867
OMIM:PS250950
ORDO:289902

Ontology

Human Disease ( DOID:0060336 )

Relationships

is a type of: organic acidemia

organic acidemia Show first 5 Terms
has subtype: 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 8 ... Show All 9 Terms

3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Barth syndrome Show first 5 Terms

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Genes Involved

Zebrafish Models

Citations