Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA dehydrogenase deficiency Definition
Glutaryl-Coa dehydrogenase deficiency, also known as Glutaric aciduria type 1 or Glutaric aciduria, is a hereditary disease characterized by the body's disability to completely metabolize lysine, tryptophan, and hydroxysiline, which are amino acids. This results in byproducts of the breakdown, including glutaryl-CoA, glutaric acid, 3-hydroxyglutaric acid, and glutaconic acid, and the accumulation of these can harm the brain.
Glutaryl-CoA dehydrogenase deficiency Symptoms and Signs
The symptoms of GA will depend on the severity of the condition, and on its two classifications: GA1 prior to encephalopathic crisis, and GA1 following the encephalopathic crisis. The symptoms of GA1 prior to encephalopathic crisis includes macrocephaly, which in itself is a warning sign for other neurological diseases. On the other hand, symptoms for GA1 after the encephalopathic crisis include neuromotor problems such as spasms, decreased muscle tone, rigidity, jerking, and muscle weakness.
Glutaryl-CoA dehydrogenase deficiency Treatment
Carnitine treatments are effective in curing the carnitine depletion symptoms caused by the disorder. The treatments aid in muscle growth and strength, and allows the patient to be less dependent on medical food provided there is liberal protein intake. Xtrp Analog, Xlys, Xtrp Maxamaid, Xtrp Maxamum, and Glutarex1 are formulas that replenish the body with amino acids and also temporarily prevent put a stop to protein malnutrition. Lysine restriction is also an effective treatment, combined with carnitine supplements, for patients to have a good prognosis.