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Maple Syrup Urine Disease (MSUD) Primary Defect Deficiency or absence of an enzyme needed to break down the branched chain amino acids, leucine, isoleucine, and valine. This results in increased serum levels of these amino acids and ketoacid intermediates. Screening Test Historically screening has been based on measurement of leucine in the dried blood spot using a bacterial inhibition assay similar to the original Guthrie assay for PKU. Screening is now possible using tandem mass spectrometry to measure the amino acids. Predictive values are not documented but should be high. Etiology & Prevalence Genetic, autosomal recessive. A number of specific genetic defects have been identified. With some, residual enzyme activity may occur, resulting in moderation of symptoms. About one in every 200,000 babies in the United States is born with MSUD. If Untreated Lethal for the classical form (absent enzyme activity), usually in the first month of life. If residual enzyme activity is present, children develop mental and physical retardation. Therapy Dietary restriction of branched chain amino acids. Requires specialized medical and nutritional intervention. With Treatment Variable. Outcome is related to age and neurological symptoms at the time therapy is initiated. Treated infants may have retardation related to onset of symptoms before screening test results are communicated. Highly coordinated screening system is essential since irreversible damage or death can occur within the first two weeks of life. |
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Washington
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11/20/2006 09:52 AM
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