Which are the causes of Maroteaux-Lamy Syndrome?

Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is a rare genetic disorder that affects the metabolism of certain complex carbohydrates called glycosaminoglycans (GAGs). This condition is caused by a deficiency of the enzyme arylsulfatase B (ASB), which is responsible for breaking down GAGs in the body.

GAGs are long chains of sugar molecules that are found in the connective tissues, including cartilage, tendons, and bones. In individuals with Maroteaux-Lamy Syndrome, the lack of functional ASB enzyme leads to the accumulation of GAGs in various tissues and organs throughout the body.

The underlying cause of Maroteaux-Lamy Syndrome is a mutation in the ARSB gene, which provides instructions for producing the ASB enzyme. This gene mutation can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have Maroteaux-Lamy Syndrome.

The symptoms of Maroteaux-Lamy Syndrome can vary widely in severity and may include:

• Delayed growth and short stature


• Coarse facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose


• Thickened skin


• Joint stiffness and limited mobility


• Enlarged liver and spleen


• Respiratory problems


• Heart valve abnormalities


• Hearing loss

Diagnosis of Maroteaux-Lamy Syndrome typically involves a combination of clinical evaluation, genetic testing, and laboratory analysis of GAG levels in urine or blood samples. Early diagnosis is crucial to initiate appropriate management and treatment strategies.

Treatment for Maroteaux-Lamy Syndrome focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve a multidisciplinary approach, including enzyme replacement therapy (ERT) to supplement the deficient ASB enzyme, surgical interventions to address specific complications, physical therapy to improve mobility, and supportive care for associated health issues.

In conclusion, Maroteaux-Lamy Syndrome is a rare genetic disorder caused by a deficiency of the ASB enzyme, leading to the accumulation of GAGs in various tissues and organs. It is important to raise awareness about this condition, promote early diagnosis, and provide appropriate support and treatment for individuals and families affected by Maroteaux-Lamy Syndrome.