maple syrup urine disease


ma·ple syr·up urine disease

noun \ˈmā-pəl-ˈsər-əp-, -ˈsir-əp-\

Definition of MAPLE SYRUP URINE DISEASE

: a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures

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