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Medicas UIS

Print version ISSN 0121-0319

Abstract

SUAREZ-GUERRERO, Jorge Luis; BELLO SUAREZ, Angie Katherine; VARGAS SANTOS, María Carolina  and  CONTRERAS-GARCIA, Gustavo Adolfo. Mucopolysaccharidosis type IV A (Morquio Syndrome type A): clinical features, genetic studies, preventive management of complications and genetic counseling.. Medicas UIS [online]. 2013, vol.26, n.2, pp.43-50. ISSN 0121-0319.

Background: mucopolysaccharidosis IV A (OMIM #253000), belongs to the group of lysosomal storage diseases, this was first described by Luis Morquio, whose etiology is a deficiency 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)

Keywords : Mucopolysaccharidosis IV; Morquio Disease; Galactosamine 6 Sulfatase Deficiency.

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