3-methyl glutaconic aciduria
3-methyl glutaconic aciduria 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.
3-methyl glutaconic aciduria 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.
3-methyl glutaconic aciduria 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.
3-methyl glutaconic aciduria 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.
3-methyl glutaconic aciduria 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.