Thursday, January 10, 2013 @7:46 PM
So, you must be wondering, what's the treatment for this disease?
First of all, a treatment is not a cure. So it's not permanent.
1. Acute decompensation of MSUD is usually treated by enteral feeding.
Acute means of short duration but severe.
Decompensation is the failure of the body to compensate for functional overload due to disease.
MSUD
leads to the patient having episodes of illness or metabolic crisis,
where the patient has an overload of BCAA (branched chain amino
acids: leucine, isoleucine and valine) in their blood. Thus treatment
must be administered quickly to reduce the amount of toxins in the
blood. It is usually treated by feeding patients with amino acid mixtures free of BCAA through enteral feeding, where a nasogastric tube
is used to deliver nutrients straight into the patient's body. The
mixture is administered with carbohydrate polymers and lipids, and it promotes protein synthesis to reduce BCAA concentrations in blood. BCAA-free amino-acid mixtures are essential to facilitate the incorporation of excess BCAA into new proteins, thereby reducing its amount in the blood and avoiding its toxic effects.
2. Hemodialysis to remove BCAAs from the patient's blood
3. Dietary restriction. BCAA-free formulas
4. Metabolic decompensation may lead to brain edema, and this requires immediate attention in intensive care settings.
References
http://www.ncbi.nlm.nih.gov/books/NBK1319/
http://link.springer.com/content/pdf/10.1007%2Fs10545-012-9570-2