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INTRODUCTION The mucopolysaccharidoses (MPS) are lysosomal storage diseases due to the deficiency of a given enzyme that normally should undertake the degradation of glycosaminoglycans (GAG). The specific enzymatic deficiencies cause the accumulation of GAG in the lysosome with subsequent organic dysfunction and are abnormally excreted in the urine.The MPS are classified into seven types and are inherited as autosomic recessive diseases with the exception of MPS II that has an X linked recessive pattern of inheritance. The clinical evolution of the MPS is chronic and progressive, with a variable presentation in age and severity; the clinical characteristics may not be evident at birth. Most of the MPS have a multisystem effect: the patients have facial coarseness, organomegaly and multiple dysostosis. The diagnosis is based on the clinical manifestations, radiological and laboratory examinations. The frequency of MPS as a group is about 1:22,500 new born.

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2013-01-16   |   637 visitas   |   Evalua este artículo 0 valoraciones

Vol. 64 Núm.5. Septiembre-Octubre 2012 Pags. 495-496 Rev Invest Clin 2012; 64(5)