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Diseases

Genetic and Rare Diseases Information Center (GARD)

Maple syrup urine disease


Other Names for this Disease
  • Branched chain ketoaciduria
  • Branched-chain alpha-keto acid dehydrogenase deficiency
  • BCKD 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.

Tests & Diagnosis

Newline Maker

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]

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

References
  1. 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.


Testing

  • 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.

Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Other Names for this Disease
  • Branched chain ketoaciduria
  • Branched-chain alpha-keto acid dehydrogenase deficiency
  • BCKD 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.