About The Medical Condition MSUD (Maple Syrup Urine Disease)
Find the definition of the medical term MSUD (Maple Syrup Urine Disease). MSUD (Maple Syrup Urine Disease) defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
MSUD (Maple Syrup Urine Disease)
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What's The Definition Of The Medical Condition MSUD (Maple Syrup Urine Disease)?
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
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