Saturday 19 January 2013

Treatments for Maple Syrup Urine Disease


The primary aims of treatment are to lower the concentration of toxic substances in the body and to prevent further accumulation.The mainstay in the treatment of MSUD is dietary restriction of branched-chain amino acids.

Acute treatment

Acute interventions are often required as soon as the diagnosis is made, or when a person already diagnosed seeks medical attention for acute neurological symptoms. They may be triggered by fasting, infections, injuries or other stressful situations, but in some cases the precipitating factor is not so obvious.

Administering glucose and minimising and regulating protein and amino acid intake helps in lowering the concentration of toxic substances in the body. Glucose stimulates insulin release, which in turn blocks protein degradation. Special amino acid solutions can also be administered intravenously. In acute situations the risk of brain oedema must be considered, as specific treatment is required. Blood sodium and glucose imbalances may occur, and there is a risk of developing pancreatitis. 


Dietary treatment 


This involves minimizing the intake of branched-chain amino acids and staying away from any potential attack triggers. In mild forms of the disease it is often sufficient to restrict protein intake. In intermittent forms, with normal levels of amino acid between attacks, dietary restrictions are sometimes not needed. However, for majority of the time, special formulas are required to compensate the nutrients lost as it contains all the essential amino acids except branched-chain amino acids. These formulas can be supplemented with low protein products and small, carefully measured amounts of natural protein. 

The aim is to maintain the level of branched-chain amino acids in the body within a safe and acceptable range. The diet of the patient should be adjusted according to the blood concentration of the amino acids.Nutrients such as vitamins, minerals and trace elements should also be supplied in sufficient amounts. It can be difficult to maintaining adequate levels of isoleucine and valine while striving to lower leucin to acceptable concentrations. Dietary suppliments may be necessary due to low valine and isoleucine levels which can cause nutritional deficiency symptoms. 

Liver transplantation


It has been shown to prevent future organ damage in MSUD, but does not reverse complications already present. The new liver can supply enough functional enzyme to regulate amino acid concentrations, even without dietary restrictions. 

All surgical procedures imply risks to individuals with MSUD and certain safety precautions should be taken, as both anaesthesia and the surgical intervention cause stress and trauma. Surgery should be carried out when the metabolic balance is as good as possible and certain safety precautions should be taken such as minimal preoperative fasting and administration of intravenous glucose administered throughout the surgery. Additionally  catabolism should be avoided before and after the surgery, blood concentration of amino acids monitored and the patient should be given special medicinal formulas as early as possible after the procedure.

References:


MSUD Family Support Group, 2009. Description and Treatment of Maple Syrup Urine Disease. [online]. Available at:< http://www.msudsupport.org/index.php?option=com_content&view=article&id=219%3Adescription-a-treatment-of-maple-syrup-urine-disease&Itemid=120> 


The New York Times, 2011. Maple Syrup Urine Disease. [online]. Available at:<http://health.nytimes.com/health/guides/disease/maple-syrup-urine-disease/overview.html>


Medscape Reference, 2012. Maple Syrup Urine Disease. [online]. Available at:<http://emedicine.medscape.com/article/946234-treatment>

5 comments:

  1. Out of all these treatment, which is the most commonly used?

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  4. Is the dietary treatment a long term or short term solution? And is there any other potential treatment or avenues for research that you would suggest?

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