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maple syrup urine disease

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maple syrup urine disease [′mā·pəl ¦sir·əp ′yu̇r·ən di‚zēz]
(medicine)
A hereditary metabolic disorder caused by deficiency of branched-chain keto acid decarboxylase; characterized by the maple-syrup-like odor of urine. Also known as branched-chain ketoaciduria.


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In the book, she examines the lives of hundreds of people living with different genetic mutations, including Huntington's disease and the rare maple syrup urine disease, which has a high prevalence in the Amish community of Pennsylvania.
Kinematic analysis of the gait of a female with Maple Syrup Urine disease.
Individuals with Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Tyrosinemia, Urea Cycle Disorders and Homocystinuria, which all require low-protein diets, are aware of this, and have been forced to endure medicinal tasting meals.
 
 
 
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