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How is MSUD treated?

There is no cure for MSUD but MSUD can in most cases be managed with a low protein diet and / or supplementation of valine and isoleucine. This low protein diet is sometimes referred to as the MSUD diet and will need to be followed for life.

The MSUD diet consists of a protein restriction, BCAA free protein substitutes and some additional supplementation to compensate for any dietary deficiencies. Protein is essential for growth, muscle maintenance, tissue repair and general wellbeing and will be provided through the above-mentioned protein substitutes. An “emergency regimen” (ER) will be provided by the metabolic team for use during times of illness.

In more recent years, liver transplantation has been used in severe cases of MSUD to help manage the disorder. However, a liver transplant has its own risks and medication to help suppress the immune system is required for life to help prevent the body from rejecting the organ. The metabolic team will be able to discuss this in more detail.

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