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Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

Paul Harmatz1, Renee Shediac2

  • 1UCSF Benioff Children's Hospital Oakland, 747 52nd St., Oakland, CA 94609, United States of America, pharmatz@mail.cho.org.

Frontiers in Bioscience (Landmark Edition)
|November 5, 2016
PubMed

Insights

Mucopolysaccharidosis VI (MPS VI) is a rare genetic disorder due to arylsulfatase B deficiency. New mass spectrometry methods show promise for diagnosing MPS VI, assessing its progression, and monitoring treatment effectiveness.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder.
  • It results from deficient arylsulfatase B (ASB) activity, leading to progressive glycosaminoglycan (GAG) accumulation.
  • MPS VI exhibits significant genotypic and phenotypic diversity, impacting disease progression.

Purpose of the Study:

  • To highlight the diagnostic challenges and emerging methods for Mucopolysaccharidosis VI.
  • To discuss the current management strategies for MPS VI.
  • To emphasize the role of advanced analytical techniques in MPS VI care.

Main Methods:

  • Diagnosis relies on clinical evaluation, elevated urinary GAGs, low ASB activity in blood spots, and enzyme assays in leukocytes or fibroblasts.
  • Liquid chromatography/tandem mass spectrometry (LC-MS/MS) is utilized for analyzing GAG-derived disaccharides.
  • Assessment includes blood or urine sample analysis.

Main Results:

  • Traditional diagnostic methods include clinical signs, biochemical markers, and enzyme activity tests.
  • LC-MS/MS analysis of GAG-derived disaccharides in biological samples is emerging as a key technique.
  • This method offers potential for improved diagnosis, prognosis, and therapeutic monitoring in MPS VI.

Conclusions:

  • MPS VI diagnosis requires a combination of clinical and biochemical assessments.
  • Enzyme replacement therapy and symptomatic treatments are current management approaches.
  • Advanced mass spectrometry techniques are poised to enhance the clinical management of MPS VI.

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