Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6 (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare lysosomal storage disorder caused by deficiency of the enzyme arylsulfatase B (N-acetylgalactosamine-4-sulfatase), encoded by the ARSB gene. This enzyme deficiency leads to the accumulation of the glycosaminoglycan dermatan sulfate in cells and tissues throughout the body. The rapidly progressing form of MPS VI represents the severe end of the clinical spectrum, with onset of symptoms typically before age 2-3 years and rapid clinical deterioration. The rapidly progressing form is characterized by severe skeletal abnormalities (dysostosis multiplex), marked short stature, coarse facial features, corneal clouding, cardiac valve disease, hepatosplenomegaly, joint stiffness and contractures, and upper airway obstruction. Carpal tunnel syndrome and spinal cord compression may also occur. Unlike some other mucopolysaccharidoses, cognitive function is generally preserved in MPS VI, though hydrocephalus can develop and may affect neurological function. Cardiac and respiratory complications are major causes of morbidity and mortality, with life expectancy often significantly reduced without treatment. Enzyme replacement therapy (ERT) with galsulfase (Naglazyme) is the primary disease-specific treatment and has been shown to improve endurance and pulmonary function. Hematopoietic stem cell transplantation (HSCT) has also been used, particularly in young patients with the severe form, and may provide additional benefits including potential stabilization of cardiac and skeletal disease. Supportive care including surgical interventions for orthopedic complications, cardiac valve replacement, corneal transplantation, and management of airway obstruction are important components of comprehensive care.

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