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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
  • MSUD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is maple syrup urine disease?

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.[1]
Last updated: 5/10/2012

Is carrier testing available for maple syrup urine disease?

Carrier testing is available on a clinical basis in families with a history of maple syrup urine disease once the mutations have been identified in the affected individual.[2]

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Individuals interested in pursuing genetic testing, including carrier testing, are encouraged to work with a genetics professional who can discuss testing options, arrange for testing, and discuss test results and their implications.

Last updated: 11/29/2009

How can I find a genetics professional in my area?

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.
Last updated: 12/13/2012

References
Other Names for this Disease
  • BCKD deficiency
  • Branched chain ketoaciduria
  • Branched-chain alpha-keto acid dehydrogenase deficiency
  • Keto acid decarboxylase deficiency
  • MSUD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.