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Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines

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Published on: November 25, 2017

Mucopolysaccharidosis VI.

Vassili Valayannopoulos¹, Helen Nicely, Paul Harmatz

¹Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France.

Orphanet Journal of Rare Diseases

|April 14, 2010

Summary

This summary is machine-generated.

Mucopolysaccharidosis VI (MPS VI) is a rare genetic disorder causing progressive multisystem damage due to arylsulfatase B deficiency. Enzyme replacement therapy with galsulfase offers improved endurance and an acceptable safety profile.

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Published on: June 14, 2016

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Mucopolysaccharidosis VI (MPS VI) is a rare autosomal recessive lysosomal storage disease.
It results from a deficiency in arylsulfatase B (ASB) enzyme activity.
This deficiency leads to the accumulation of dermatan sulfate, causing progressive multisystemic symptoms.

Purpose of the Study:

To provide a comprehensive overview of MPS VI.
To discuss the clinical manifestations, diagnosis, and current treatment options.
To highlight the impact of enzyme replacement therapy (ERT) on patient outcomes.

Main Methods:

Literature review of MPS VI pathogenesis, clinical features, and diagnostic criteria.
Analysis of diagnostic methods including enzyme activity assays and genetic testing.
Evaluation of treatment outcomes, focusing on ERT with galsulfase.

Main Results:

MPS VI presents with a wide spectrum of symptoms, including skeletal dysplasia, cardiac, pulmonary, and ophthalmologic issues.
Diagnosis relies on clinical phenotype, reduced ASB enzyme activity, and elevated urinary glycosaminoglycans.
Enzyme replacement therapy (ERT) with galsulfase has shown efficacy in improving endurance and has an acceptable safety profile.

Conclusions:

MPS VI is a severe genetic disorder requiring early diagnosis and management.
ERT with galsulfase represents a significant advancement in treating MPS VI, improving quality of life.
Prognosis is variable and depends on disease progression, age of onset, and treatment initiation.