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.
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- MSUD Family Support Information about MSUD in English and Spanish, a list of contacts and an occasional newsletter.
- Maple Syrup Urine Disease The American Chemical Society describes the lack of progress in understanding the pathology of MSUD.
- Newborn Screening Program Describes the Illinois newborn screening for MSUD, performed using tandem mass spectrometry.
- NewbornScreening Recommended best practice for screening of newborns for MSUD.
- Newborn Screening Explains the inheritance mechanism for recessive conditions such as MSUD.
- eMedicine - MSUD Details some of the chemistry behind MSUD, and treatments.
- Secretion secrets: things you didn’t know about ear wax 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.
- Online Mendelian Inheritance in Man: MSUD Details of the genetic faults behind MSUD, with references.
- MedlinePlus Medical Encyclopedia: Maple Syrup Urine Disease Summarizes the causes, symptoms, treatment and prognosis of MSUD.