National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Maple syrup urine disease

Back to List of Questions
My brother has maple syrup urine disease. Is carrier testing available for individuals from families at risk?

The following information may help to address your question:


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.[1]

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

We suggest that you speak with a genetics professional about your family history and desire for genetic testing. 
Last updated: 1/19/2017

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 8/23/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

  1. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. GeneReviews. May 9, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1319/.