Maple syrup urine disease

Treatment

What are the first steps after an initial diagnosis of maple syrup urine disease?

The first thing to do after diagnosis is to cease the intake of branched-chain amino acids (BCAA). Treatment consists of restricting leucine from the diet, using BCAA-free medical foods, supplementing carefully with isoleucine and valine. Frequent monitoring by your doctor and blood testing are required. Dietary management is one of the most important ways to treat and manage maple syrup urine disease.

To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

References
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
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Is there a treatment for maple syrup urine disease?

Are there dietary guidelines to follow for maple syrup urine disease?

Is there a treatment for maple syrup urine disease?

There is no cure for maple syrup urine disease; however dietary management can significantly limit the symptoms and side effects. The goal of dietary management is to maintain a normal plasma level of the branched-chain amino acids. Restriction of branched-chain amino acids is achieved through formulas and medical foods created specifically without branched-chain amino acids. If this dietary restriction is maintained than there is no worsening of cognitive function or other symptoms. Acute episodes of MSUD may still occur during times of physiological stress and these are treated very aggressively to rapidly lower the plasma concentrations of the branched-chain amino acids.

Liver transplantation has been shown to allow individuals with classic MSUD to no longer require dietary restriction to maintain normal plasma levels of branched-chain amino acids. It also gives protection against acute episodes during times of physiological stress. Liver transplantation cannot reverse any existing cognitive disabilities or psychiatric illness; it does stop it from progressing.

Thiamine-responsive maple syrup urine disease are treated with thiamine and do not require dietary restriction. However, this is controversial as there has only been one true case of thiamine-responsive MSUD. Most individuals are treated with both dietary restriction of branched-chain amino acids and thiamine.

To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

References
  • Overview of maple syrup urine disease. (2014, September 17). Retrieved February 10, 2016, from UpToDate
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
Are there dietary guidelines to follow for maple syrup urine disease?

There are nutritional management guidelines for maple syrup urine disease that outline recommendations for acute dietary treatment, obtaining appropriate branched-chain amino acid plasma levels, as well as guidelines for pregnancy and post-partum management. The guidelines were put out by the Genetic Metabolic Dietitians International and Southeast Regional Newborn Screening and Genetics Collaborative. These guidelines should be discussed with your physician and dietitian and be personalized to you. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

References
  • Frazier, D.,et al. (2014). Nutrition management guideline for maple syrup urine disease: An evidence-and consensus-based approach. Molecular Genetics and Metabolism, 210-217.

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