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Acta Médica Costarricense
On-line version ISSN 0001-6002Print version ISSN 0001-6012
Abstract
PEREZ-ELIZONDO, Eugenia; ACOSTA-GUALANDRI, Alejandra and JIMENEZ-HERNANDEZ, Mildred. Mucopolysaccaridosis II: new pathogenic mutation in IDS gene. Acta méd. costarric [online]. 2014, vol.56, n.4, pp.180-182. ISSN 0001-6002.
Mucopolysaccharidosis type II is a lisosomal disorder caused by a deficiency of the iduronate 2 sulphatase enzyme. It is a rare metabolic disease with an X linked recessive inheritance that may cause important progressive disability. Molecular analysis is a useful technique to confirm diagnosis and to identify asymptomatic carriers, thus allowing genetic counseling. We report the case of a patient with Muchopolysacharidosis type II with a new pathogenic mutation in the IDS gene.
Keywords : mucopolysaccaridosis; Hunter Syndrome; lysosomal disease; iduronate-2-sulphatase enzyme; glycosaminoglycans.