Mucopolysaccaridosis II: new pathogenic mutation in IDS gene)
DOI:
https://doi.org/10.51481/amc.v56i4.859Keywords:
mucopolysaccaridosis, Hunter Syndrome, lysosomal disease, iduronate-2-sulphatase enzyme, glycosaminoglycansAbstract
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.
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- 2014-10-01 (2)
- 2015-01-30 (1)
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