Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

Agnieszka Jurecka (Coresponding Author), Zita Krumina, Zbigniew Zuber, Agnieszka Rózdzyńska-Światkowska, Anna Kłoska, Barbara Czartoryska, Anna Tylki-Szymańska

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase (IDS). Two affected girls with moderate and severe forms of MPS II with normal karyotypes and increased urinary dermatan sulphate and heparin sulphate excretion and marked deficiencies of IDS activity are reported. Molecular studies showed that case 1 has a heterozygous mutation c.1568A>G (p.Y523C) associated with almost totally skewed inactivation of the normal maternal X chromosome, and case 2 has a heterozygous deletion that includes exons 1-4 of IDS (minimal deletion range c.1-103_184del). The multi-exon deletion correlated with early onset of the disease and severe phenotype with intellectual disability, whereas the missense mutation was associated with moderate developmental delay. Although genotype-phenotype correlation in MPS II is difficult, gene deletions seem to correlate with more severe clinical manifestation of the disease. Enzyme replacement therapy (ERT) in these two females resulted in disease stabilization in both.

Original languageEnglish
Pages (from-to)450-454
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number2
Publication statusPublished - Feb 2012
Externally publishedYes


  • Enzyme replacement therapy
  • Female Hunter syndrome
  • Genotype
  • Mucopolysaccharidosis type II
  • Phenotype

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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