Which are the symptoms 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 sugars called glycosaminoglycans (GAGs). This condition is characterized by the deficiency of an enzyme called arylsulfatase B, which leads to the accumulation of GAGs in various tissues and organs of the body.

The symptoms of Maroteaux-Lamy Syndrome can vary in severity and may appear at different ages, but they generally become more pronounced over time. Some of the common signs and symptoms include:

• Skeletal abnormalities: Individuals with Maroteaux-Lamy Syndrome often have skeletal abnormalities, such as short stature, abnormal curvature of the spine (kyphosis and scoliosis), and joint stiffness. These skeletal changes can cause mobility issues and may require orthopedic interventions.



• Facial features: Affected individuals may have distinct facial features, including a broad nose, thickened lips, a large tongue, and widely spaced teeth. These facial characteristics can contribute to difficulties with speech and dental problems.



• Organ enlargement: The accumulation of GAGs can cause the enlargement of certain organs, such as the liver and spleen. This enlargement, known as hepatosplenomegaly, may lead to abdominal distension and discomfort.



• Respiratory problems: Maroteaux-Lamy Syndrome can affect the respiratory system, leading to recurrent respiratory infections, sleep apnea, and a reduced lung capacity. Breathing difficulties can significantly impact the quality of life for individuals with this condition.



• Cardiovascular complications: Some individuals with Maroteaux-Lamy Syndrome may develop cardiovascular problems, including valve abnormalities and thickening of the heart walls. These complications can lead to heart murmurs, cardiac arrhythmias, and an increased risk of cardiovascular disease.



• Hearing and vision impairment: The accumulation of GAGs can also affect the sensory organs. Hearing loss, often due to fluid buildup in the middle ear, and vision impairment, such as corneal clouding and retinal degeneration, are common in individuals with Maroteaux-Lamy Syndrome.



• Neurological involvement: In some cases, Maroteaux-Lamy Syndrome can affect the central nervous system, leading to developmental delays, intellectual disability, and behavioral problems. However, the neurological symptoms vary widely among affected individuals.



• Other features: Additional features of Maroteaux-Lamy Syndrome may include hernias, thickened skin, carpal tunnel syndrome, and a reduced range of motion in the joints.

It is important to note that the severity and combination of symptoms can vary significantly among individuals with Maroteaux-Lamy Syndrome. Some individuals may experience mild symptoms and have a relatively normal lifespan, while others may have more severe symptoms that can significantly impact their daily functioning and life expectancy.

Early diagnosis and appropriate management are crucial in improving the outcomes for individuals with Maroteaux-Lamy Syndrome. Treatment options may include enzyme replacement therapy, surgical interventions for skeletal abnormalities, respiratory support, and supportive care to address specific symptoms and complications.