title: Mucopolysaccharidosis type II in females: case report and review of literature.
abstract: 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.
authors.affiliation: Department of General Pediatrics, University Children's Hospital Vienna, Austria.
authors.forename: Karin
authors.initials: K
authors.lastname: Tuschl
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
authors.forename: Eduard
authors.initials: E
authors.lastname: Paschke
authors.forename: Susanne
authors.initials: S
authors.lastname: Kircher
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
mesh_terms: D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012737:Sex Factors
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human