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

  • Juan Manuel Aparicio-Rodríguez Benemérita Universidad de Puebla

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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Published
2015-01-20
How to Cite
Aparicio-Rodríguez, J. M. (2015). 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. RIDE Revista Iberoamericana Para La Investigación Y El Desarrollo Educativo, 3(6), 203 - 218. Retrieved from https://ride.org.mx/index.php/RIDE/article/view/80
Section
Medical and Health