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3-methyl glutaconic aciduria Report an error in disease page


3-Methylglutaconic aciduria also known as MGA is a term that is used to depict at least 5 varying disorders which makes the body incapable of creating mitochondrial energy. Due to this impairment, 3-methylglutaric acid and 3-methylglutaconic acid create a buildup and their presence can be detected in the patient's urine. 3-Methylglutaconic acid, by classification, is an organic acid. The potency of this acid is made possible by the roles of the double carboxylic acids. The acid function makes the 3-methylglutaconic acid detectable.


Symptoms and Signs

The distinct traits of Type I include delay in speech and development (whether motor or mental skills); muscle tone abnormality or dystonia; spasms and spastic quadriparesis; and metabolic acidosis or the elevation of acid levels in tissues and blood. Barth syndrome's characteristics include dilated cardiomyopathy or an enlarged and weak heart; stunted growth; skeletal problems; neutropenia or infection due to insufficient number of white blood corpuscles. About 1 in every 200,000 male infants have the type II of MGA. Type III is characterized by optic nerve degeneration; problems of the nervous system; bad posture; some involuntary movements; and generally, a decrease in functions of the brain. 1 in every 10,000 births among Jewish-Iraqis have the Type III of MGA. Type IV shows varying symptoms which are similar to the characteristics of types I-III.



Disorders of the mitochondria can now be treated. Several methods have been invented to help cure the disorder. One such invention is the administration of triacetyluridine or other nucleosides that are pyrimidine-based.

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