3-methyl glutaconic aciduria

Below you will find more information about 3-methyl glutaconic aciduria from Medigest. If you believe that you are suffering from any of the symptoms of 3-methyl glutaconic aciduria it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with 3-methyl glutaconic aciduria and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to 3-methyl glutaconic aciduria comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

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.

Treatment

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.

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.

MGA Sub-groups

There are five known sub-groups of the 3-Methylglutaconic aciduria. They are the following: Type I is known as 3-Methylglutaconyl-CoA Hydratase Deficiency or 3-Methylglutaconic academia; Type II is also called the Cardiomyopathy-neutropenia syndrome or Barth syndrome; Type III is known as the Costeff syndrome; Type IV is called the 3-Methylglutaconic aciduria type IV; and Type V is Methylglutaconic aciduria type V.

Epidemiology

3-Methylglutaconic aciduria appears to be common among the Jewish people of Iraq. There are, however, a great number of cases of this disorder in the Canadian Saguenay region. This only shows that the disease is prevalent in insular regions wherein most people marry amongst their own relatives. This practice increases the chance for the disease to prevail as there are more incidents of congenital marriages, couples can both be carriers and there are higher birth rates in such regions. Remember that 3-Methylglutaconic aciduria is a genetic disease and one good way to prevent it is to associate with other people from a different population or race.

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