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Guide To Treating Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) is a rarely occurring disorder passed down through families. It is characterized by the body having a deficient supply of certain enzymes used to break down amino acids. Because of this, the amino acids valine, isoleucine, and leucine build up throughout the body in abnormal amounts. The main symptom of maple syrup urine disease is the patient's urine may smell similar to maple syrup. 

If not appropriately treated, this disease can lead to neurological problems. If not treated at all, brain damage will occur, followed by death. There are a number of treatment methods available for maple syrup urine disease.

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Protein-Restrictive Diet

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A protein-restrictive diet is the first course of treatment most doctors recommend for maple syrup urine disease. There are four types of this condition: thiamine-responsive, intermittent, intermediate, and classic. No matter which type a patient has, it's necessary for their diet to limit the number of amino acids they consume. Since the condition is present from birth, the specialized diet needs to begin very soon after a baby with maple syrup urine disease is born. There are special artificially created formulas that allow babies to get the nutrients they need without ingesting harmful amino acids.

As individuals with this condition get older, their diet options expand, but they still need to be careful not to build up levels of amino acids they cannot break down. If their amino acid levels become too high, they will develop neurological symptoms, which will be followed by brain damage. If the condition continues to go untreated, death will occur within weeks.

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