Report of 5 cases with maple syrup disease over a period of 16 years. extended metabolic screening; comprehensive detection of inborn errors of metabolism in the hospital for child poblano
Abstract
The Inborn errors of metabolism (IEM) since 1908 frequently as phenylketonuria and galactosemia, and albinism, cystinuria and Porphyria and a rare incidence Odor Urine Disease Maple Syrup (MSUD) is reported in this study. Secondary to a deficiency of alpha-ketoacid dehydrogenase complex (BCKDC) giving an alteration of the amino acids leucine, isoleucine and valine, causing toxic blood and urine.
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References
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