Cures and Treatment for MSUD

The treatments and cures are form under the basis of lowering the concentration of the three amino acids, leucine, isoleucine and valine, which are at a dangerously high concentration level due the deficient BCKDH enzyme that is unable to break down the amino acids. These treatment and cures involve diets and surgery.

Dietary Therapy

Special Formula Powder for babies

This therapy involves dietary restriction of the amino acids leucine, isoleucine and valine. Dietary therapy must begin as early as possible to prevent brain damage and is lifelong. Babies or toddlers with MSUD should eat a specially formulated powder that does not contain any of the three amino acid. As the person grows up, the person does not need to eat the formulated powder and can eat more normal sustenance that everybody eats. However, the person still has to pay special attention to his or her diet, avoiding high protein containing foods such as meat,eggs and nuts. The amount of leucine intake is calculated on a individual basis by the following the measurement of the three plasma amino acids. If levels of the three amino acids are too high, an intravenous solution is adminsitered that helps to use up excess lecuine, isoleucine and valine in the body. People with a rare form of MSUD called'' thiamine-responisve MSUD'' may need to take thiamine supplements.

Liver Transplant surgery

This is an optional treatment for people with MSUD. It has shown to very effective if the surgery is successful, being able to cure patients of the MSUD symptoms. This is due the BCKDH enzyme being located in the liver is replaced by a donor's liver with the normal BCKDH enzyme. However, the liver transplant would not be able reverse the brain damage already caused but only stop it. Furthermore, the patient must now take medication for the rest of their lives to prevent their body form rejecting the donor. The risks of surgery should also be considered.

Reference:

STAR-G, 2014. Newborn Screening [Online] 
Available at: <http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html>
Learn.Genetics, 2014. Maple Syrup Urine Disease [Online]
Available at: <http://learn.genetics.utah.edu/content/disorders/singlegene/msud/>
Medscape, 2014. Maple Syrup Urine Disease Treatment & Managment [Online]
Available at: <http://emedicine.medscape.com/article/946234-treatment#a1130>