Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare, autosomal recessive lysosomal storage disease caused by a deficiency in the enzyme arylsulfatase B (ASB). This deficiency leads to the accumulation of dermatan sulfate and chondroitin sulfate in various tissues and organs, resulting in a wide range of symptoms and physical abnormalities. MPS VI is classified into severe and intermediate forms, based on the severity of symptoms and the age of onset.

Symptoms and Diagnosis

The symptoms of MPS VI can vary widely among individuals but generally include growth retardation, skeletal abnormalities (dysostosis multiplex), joint stiffness, and impaired mobility. Severe cases often present in early childhood, while intermediate cases may not become apparent until later in childhood or early adolescence.

Diagnosis of MPS VI is based on clinical evaluation, identification of characteristic symptoms, and specialized tests that measure the activity of the arylsulfatase B enzyme in the body. Genetic testing can confirm the diagnosis by identifying mutations in the ARSB gene, which provides instructions for producing the enzyme.

Treatment

There is no cure for MPS VI, but treatment options are available to manage symptoms and improve quality of life. Enzyme replacement therapy (ERT) with galsulfase (Naglazyme), a synthetic version of the deficient enzyme, has been shown to slow the progression of the disease. Other treatments focus on managing specific symptoms and may include physical therapy, surgical interventions to address skeletal abnormalities, and supportive care for respiratory and cardiac issues.

Prognosis

The prognosis for individuals with MPS VI varies depending on the severity of the disease and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes, but life expectancy is generally reduced, especially in severe cases.

Epidemiology

MPS VI is a rare disorder, with an estimated incidence of 1 in 250,000 to 600,000 live births worldwide. It affects males and females equally.

Research

Research into MPS VI is focused on improving treatment options and understanding the disease mechanism. Gene therapy and substrate reduction therapy are among the approaches being investigated as potential treatments.

Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Resources
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