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.
Related categories 4
eMedicine - MSUD
Details some of the chemistry behind MSUD, and treatments.
Maple Syrup Urine Disease
The American Chemical Society describes the lack of progress in understanding the pathology of MSUD.
MedlinePlus Medical Encyclopedia: Maple Syrup Urine Disease
Summarizes the causes, symptoms, treatment and prognosis of MSUD.
MSUD Family Support
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.
Newborn Screening Program
Describes the Illinois newborn screening for MSUD, performed using tandem mass spectrometry.
Recommended best practice for screening of newborns for MSUD.
Online Mendelian Inheritance in Man: MSUD
Details of the genetic faults behind MSUD, with references.
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. (March 16, 2014)
Last update:October 18, 2016 at 2:59:12 UTC