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 QuestionMy brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
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.
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.
- Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=msud. Accessed 11/29/2009.