Maple Syrup Urine Disease Inherited Nutrition and Metabolism Disorders Conditions and Diseases

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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• Maple Syrup Urine Disease - The American Chemical Society describes the lack of progress in maple syrup urine disease understanding the pathology of MSUD.
• MSUD Family Support - Information about MSUD in English and Spanish, a maple syrup urine disease list of contacts and an occasional newsletter.
• Newborn Screening Program - Describes the Illinois newborn screening for MSUD, performed using tandem mass spectrometry.
• 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.
• GeneReviews: Maple Syrup Urine Disease - Precise information on testing for being a carrier of MSUD.
• Online Mendelian Inheritance in Man: MSUD - Details of the genetic faults behind MSUD, with maple syrup urine inherited disease references.
• NewbornScreening - Recommended best practice for screening of newborns for MSUD.
• 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 nutrition and metabolism inherited disorders treatments.
• Newborn Screening - Explains the inheritance mechanism for recessive conditions such as MSUD.

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