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The diagnosis and management of mucopolysaccharidosis type II

Shao-Jia Mao1, Qing-Qing Chen1, Yang-Li Dai1

  • 1Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.

Italian Journal of Pediatrics
|October 8, 2024
PubMed

Insights

Mucopolysaccharidosis type II (MPS II) is a rare genetic disorder affecting cell function due to iduronate-2-sulfatase deficiency. Diagnosis involves clinical signs, imaging, and genetic tests, with limited treatment options and high misdiagnosis rates in China.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease.
  • Pathogenic variants in the IDS gene lead to deficient iduronate-2-sulfatase (IDS) activity.
  • This deficiency impairs glycosaminoglycan (GAG) degradation, causing multisystemic manifestations.

Purpose of the Study:

  • To summarize the current understanding of MPS II.
  • To highlight diagnostic approaches and challenges.
  • To discuss therapeutic limitations and the impact on diagnosis in China.

Main Methods:

  • Review of clinical manifestations.
  • Description of diagnostic tools including imaging, biochemical assays, and genetic testing.
  • Analysis of current treatment strategies and their accessibility.

Main Results:

  • MPS II presents with diverse symptoms like coarse facial features and skeletal abnormalities.
  • Diagnosis requires a comprehensive approach combining clinical, imaging, biochemical, and genetic data.
  • Current treatments like enzyme replacement therapy are limited by cost and availability.

Conclusions:

  • Effective diagnosis of MPS II relies on integrated clinical and laboratory findings.
  • Symptomatic treatment remains primary due to therapeutic and economic constraints.
  • Limited disease awareness and diagnostic infrastructure contribute to high misdiagnosis rates in China.
Keywords:
Enzyme replacement therapyGene therapyGlycosaminoglycansHematopoietic stem cell transplantationMucopolysaccharidosis type IISubstrate reduction therapy

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