What Is Maroteaux-Lamy Syndrome?

Definition: Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is a rare genetic disorder caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B) that leads to the accumulation of glycosaminoglycans (GAGs) in the body. This accumulation of GAGs results in a range of progressive symptoms and complications, including skeletal abnormalities, coarse facial features, corneal clouding, organ damage, and developmental delays.

Symptoms:

- Skeletal abnormalities: Short stature, joint stiffness, bone deformities, and kyphosis (curvature of the spine).

- Coarse facial features: Broad facial appearance, thick eyebrows, depressed nasal bridge, and enlarged tongue.

- Corneal clouding: Clouding of the cornea (the clear outer layer of the eye) can lead to vision impairment.

- Organ damage: Liver, heart, kidney, and bone marrow involvement.

- Neurological problems: Developmental delays, learning difficulties, and spinal cord compression.

- Hearing loss.

Treatment: MPS VI can be managed, but there is no cure. Treatment options may include:

- Enzyme replacement therapy (ERT): Regular infusions of the missing enzyme to help reduce GAG accumulation.

- Supportive care: Specialized medical care to address specific symptoms and complications, such as physical therapy, pain management, and eye care.

- Hematopoietic stem cell transplantation (HSCT): Bone marrow transplant to replace the faulty cells with healthy ones. It's most effective when performed early in the course of the disease.

- Clinical trials: Participation in clinical trials for experimental treatments may be an option for some individuals.

Inheritance pattern: MPS VI is an autosomal recessive genetic disorder, meaning a child must inherit two copies of the defective gene (one from each parent) to have the condition.