Maple syrup urine disease
- BCKD deficiency
- BCKDH deficiency
- Branched chain ketoaciduria
- Branched-chain 2-ketoacid dehydrogenase deficiency
- Branched-chain alpha-keto acid dehydrogenase deficiency
Your QuestionMy brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk?
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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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
- The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
- The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
- The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer 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.