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.
Details some of the chemistry behind MSUD, and treatments.
The American Chemical Society describes the lack of progress in understanding the pathology of MSUD.
Summarizes the causes, symptoms, treatment and prognosis of MSUD.
Information about MSUD in English and Spanish, a list of contacts and an occasional newsletter.
Explains the inheritance mechanism for recessive conditions such as MSUD.
Describes the Illinois newborn screening for MSUD, performed using tandem mass spectrometry.
Recommended best practice for screening of newborns for MSUD.
Details of the genetic faults behind MSUD, with references.
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.
Thanks to DMOZ, which built a great web directory for nearly two decades and freely shared it with the web. About us