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Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan

P H Su1, W L Hwu, S C Chiang

  • 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Journal of the Formosan Medical Association = Taiwan Yi Zhi
|April 29, 1998
PubMed

Insights

Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked disorder. Early recognition of symptoms like developmental delays is crucial for timely genetic counseling and management.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are inherited lysosomal storage diseases.
  • Mucopolysaccharidosis type II (Hunter's syndrome) is X-linked recessive, caused by iduronate sulfatase deficiency.

Purpose of the Study:

  • To analyze glycosaminoglycan content and enzyme activity in Hunter's syndrome patients and carriers.
  • To evaluate diagnostic delays and their impact on families.

Main Methods:

  • Analysis of urinary glycosaminoglycans.
  • Measurement of iduronate sulfatase activity in fibroblasts and plasma.
  • Clinical assessment of 12 patients and 7 carriers.

Main Results:

  • Diagnosis ages ranged from 1 year 10 months to 11 years (mean 4.3 yr).
  • Diagnostic delays averaged 2.1 years.
  • Common initial symptoms included developmental delays and speech issues; coarsening facial features were universal at diagnosis.

Conclusions:

  • Prompt clinical suspicion and referral are vital for managing Hunter's syndrome.
  • Difficulties in diagnosis led to recurrence in 4 of 11 families.
  • Early recognition is key for genetic counseling and potential future therapies.

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