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Journal

Mucopolysaccharidosis type II in females: case report and review of literature.

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Published:1st Apr 2005
Author: Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA.
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Ref.:Pediatr Neurol. 2005 Apr;32(4):270-2.
DOI:10.1016/j.pediatrneurol.2004.10.009

Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.

 

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