Maple syrup urine disease
Other Names for this Disease
- BCKD deficiency
- Branched chain ketoaciduria
- Branched-chain alpha-keto acid dehydrogenase deficiency
- Keto acid decarboxylase deficiency
Your QuestionI recently began having a maple syrup smell. Is it possible for an adult to develop maple syrup urine disease? How can I get tested?
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Questions on this page
- Classic maple syrup urine disease is the most common type. Individuals with classic maple syrup urine disease have little or no enzyme activity (usually less than 2 % of normal). Infants with this type of maple syrup urine disease will show symptoms within the first several days of life. It is managed through diet with severe protein restriction.
- Intermediate maple syrup urine disease is a variant of the classic type. Individuals with intermediate maple syrup urine disease have a higher level of enzyme activity (approximately 3 to 8% of normal) and can tolerate a greater amount of leucine. However, in periods of illness or fasting, these individuals may react like a child with the classic type of maple syrup urine disease. Management is similar to that used for the classic type.
- Intermittent maple syrup urine disease is a milder form of the disease. Individuals with this type have a greater level of enzyme activity (approximately 8 to 15% of normal) and often do not have symptoms until 12 to 24 months of age, usually as a result of an illness or surge in protein intake. During an illness, an individual with intermittent maple syrup urine disease may exhibit a strong maple syrup odor and/or go into a metabolic crisis.
- Thiamine-responsive maple syrup urine disease is so named because large doses of thiamine given to these individuals will result in an increase in the enzyme activity which breaks down leucine, isoleucine and valine. Only moderate protein restriction is needed to manage this type of maple syrup urine disease.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Maple syrup urine disease. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease. Accessed 5/10/2012.
- MSUD Classifications. MSUD Family Support Group. 2010; http://www.msud-support.org/index.php?option=com_content&view=article&id=307&Itemid=88. Accessed 5/10/2012.
- Diagnosis-Screening. MSUD Family Support Group. 2010; http://www.msud-support.org/index.php?option=com_content&view=article&id=308&Itemid=89. Accessed 5/10/2012.