Syndrome Name: Maroteaux-Lamy Syndrome

Synonyms: Mucopolysaccharidosis Type VI, MPS VI

Description:

Maroteaux-Lamy Syndrome, also known as Mucopolysaccharidosis Type VI or MPS VI, is a rare autosomal recessive genetic disorder that affects the metabolism of mucopolysaccharides, specifically the enzyme called arylsulfatase B. This enzyme helps break down long chains of sugar molecules called glycosaminoglycans (GAGs). In individuals with Maroteaux-Lamy Syndrome, the deficiency or malfunction of this enzyme leads to the accumulation of GAGs in various tissues and organs throughout the body, resulting in a range of symptoms.

Signs and Symptoms:

• Skeletal Abnormalities: Children with Maroteaux-Lamy Syndrome may develop joint stiffness, short stature, and skeletal deformities such as abnormalities of the spine (kyphosis or scoliosis), pectus carinatum, or genu valgum (knock knees).
• Respiratory Issues: Due to the accumulation of GAGs in the tissues around the airways, individuals may experience respiratory problems such as obstructive sleep apnea, recurrent respiratory infections, and a reduced lung capacity.
• Cardiovascular Problems: Some affected individuals may develop heart valve abnormalities, including mitral and aortic valve insufficiency.
• Enlarged Liver and Spleen: The accumulation of GAGs can cause hepatomegaly (enlarged liver) and splenomegaly (enlarged spleen).
• Corneal Clouding: The buildup of GAGs in the cornea can lead to corneal clouding, which may result in blurred vision and potential loss of visual acuity.
• Other Features: Additional features can include hernias, coarse facial features, thickened skin, progressive hearing loss, and developmental delays.

Treatment:

Currently, no cure exists for Maroteaux-Lamy Syndrome. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals. It may include enzyme replacement therapy, surgical interventions for specific complications, physical and occupational therapy, respiratory support, and addressing any associated medical problems on a case-by-case basis. Regular monitoring and a multidisciplinary approach involving medical specialists are essential in the management of this syndrome.