Keywords
Morquio Disease
Galactosamine 6 Sulfatase Defciency
How to Cite
Abstract
Background: mucopolysaccharidosis IV A (OMIM # 253000), belongs to the group of lysosomal storage diseases, this was frst described by Luis Morquio, whose etiology is adefciency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase, favoring the deposit intracellular queratán sulfate and chondroitin-6-sulfate, leading to the spectrum of clinical manifestations that characterize this syndrome are short stature, vertebral abnormalities, corneal opacities, preserved intelligence, among others. X-ray can see the vertebrae ovoid or wedge, and alterations in long bones. Objetive: make a general overview of MPS IV A, its clinical features, complications, genetic testing, genetic counseling and preventive management. Conclusions: laboratory tests as test test cetylpyridinium chloride or acid albumin essential for diagnosis. As for treatment to date there is no enzyme replacement therapy are therefore preventive care, and management of these people should be interdisciplinary (medicine, nutrition, psychology, etc.). (MÉD.UIS.2013;26(2):43-50)
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