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Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

1 Jan 2017Review

Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment

Paul R. Harmatz 1,*, Renee Shediac 2
Affiliations
Article Info

1 UCSF Benioff Children’s Hospital Oakland, Department of Gastroenterology, Oakland, CA, USA

2 BioMarin Pharmaceutical Inc., Novato, CA, USA

Abstract

Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease. Diagnosis of MPS VI relies on presence of clinical features, increased GAG levels in urine or low ASB activity in dried blood spots, and measurement of enzyme activity levels in leukocytes or fibroblasts. The management of MPS VI involves enzyme replacement therapy and medical and surgical treatment of disease manifestations. Liquid chromatography/tandem mass spectrometry of GAG-derived disaccharides in blood or urine is emerging as a valuable method in the diagnosis, prognosis and assessment of therapeutic efficacy in MPS VI.

Keywords

  • Mucopolysaccharidosis VI
  • MPS VI
  • Maroteaux-Lamy Syndrome
  • Glycosominoglycans
  • Arylsulfatase B
  • Enzyme Replacement Therapy
  • Dermatan sulfate
  • Review

References