Resumo

PEREZ-ELIZONDO, Eugenia; ACOSTA-GUALANDRI, Alejandra  e  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.

Palavras-chave : mucopolysaccaridosis; Hunter Syndrome; lysosomal disease; iduronate-2-sulphatase enzyme; glycosaminoglycans.

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