Directory of Maple Syrup Urine Disease Resources

Home > Health > Conditions and Diseases > Nutritional and Metabolic Disorders > Inherited > Maple Syrup Urine Disease

Site about and for those dealing with Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder present in about four in a million births, that, untreated, causes mental retardation, physical disabilities and death.

Resources in This Category

• eMedicine - MSUD

  http://emedicine.medscape.com/article/946234-overview
  Details some of the chemistry behind MSUD, and treatments.

• Maple Syrup Urine Disease

  http://pubs.acs.org/subscribe/journals/mdd/v05/i03/html/03disease.html
  The American Chemical Society describes the lack of progress in understanding the pathology of MSUD.

• MedlinePlus Medical Encyclopedia: Maple Syrup Urine Disease

  https://medlineplus.gov/ency/article/000373.htm
  Summarizes the causes, symptoms, treatment and prognosis of MSUD.

• MSUD Family Support

  http://www.msud-support.org/
  Information about MSUD in English and Spanish, a list of contacts and an occasional newsletter.

• Newborn Screening

  http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html
  Explains the inheritance mechanism for recessive conditions such as MSUD.

• Newborn Screening Program

  http://www.idph.state.il.us/HealthWellness/fs/msud.htm
  Describes the Illinois newborn screening for MSUD, performed using tandem mass spectrometry.

• NewbornScreening

  http://www.newbornscreening.com/cms/Maple_Syrup_Urine_Disease.shtml
  Recommended best practice for screening of newborns for MSUD.

• Online Mendelian Inheritance in Man: MSUD

  http://omim.org/entry/248600
  Details of the genetic faults behind MSUD, with references.

• Secretion secrets: things you didn’t know about ear wax

  http://www.bbc.co.uk/news/health-26527266
  The BBC reports that maple syrup urine disease can be easily diagnosed through the scent of earwax compounds — and swabbing someone's ears is a much simpler and cheaper process then doing a genetic test.

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