Maple Syrup Urine Disease Inherited Nutrition and Metabolism Disorders

Maple Syrup Urine Disease Inherited Nutrition and Metabolism Disorders

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.

Top: Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Inherited: Maple Syrup Urine Disease

See Also:

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.
eMedicine - MSUD - Details some of the chemistry behind MSUD, and treatments.
MSUD Family Support - Information about MSUD in English and Spanish, a list of contacts and an occasional newsletter.
GeneReviews: Maple Syrup Urine Disease - Precise information on testing for being a carrier of MSUD.
Newborn Screening - 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.
Maple Syrup Urine Disease - The American Chemical Society describes the lack of progress in understanding the pathology of MSUD.
NewbornScreening - Recommended best practice for screening of newborns for MSUD.
MSUD Research Foundation - A non-profit organization promoting research of MSUD, to ensure all families have the technology, services, education and treatment available to detect and manage of MSUD.

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