What is Maroteaux-Lamy Syndrome

TL;DR: Maroteaux-Lamy Syndrome, also known as Mucopolysaccharidosis type VI (MPS VI), is a rare, progressive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B. This leads to the buildup of complex sugars (glycosaminoglycans) in tissues throughout the body, resulting in skeletal abnormalities, organ enlargement, and characteristic physical features.

What causes Maroteaux-Lamy Syndrome?

Maroteaux-Lamy Syndrome is an autosomal recessive genetic condition. Because the body lacks sufficient arylsulfatase B, it cannot break down dermatan sulfate. These undegraded molecules accumulate within cells, impairing their function and causing damage to cartilage, bone, and soft tissues. This mechanism distinguishes Maroteaux-Lamy Syndrome from other mucopolysaccharidoses, as patients typically maintain normal cognitive development, which is a key differentiator from conditions like Hurler syndrome.

Which body systems are affected by Maroteaux-Lamy Syndrome?

The multisystemic nature of Maroteaux-Lamy Syndrome means it can impact several areas of health:

• Skeletal System: Short stature, joint stiffness, and spinal deformities (such as kyphosis).


• Cardiac Health: Thickening of heart valves, which may require monitoring.


• Vision and Hearing: Corneal clouding and frequent ear infections or hearing loss.


• Respiratory System: Obstructive sleep apnea and airway narrowing.


• Abdominal Organs: Enlargement of the liver and spleen (hepatosplenomegaly).

How common is Maroteaux-Lamy Syndrome?

Maroteaux-Lamy Syndrome is exceptionally rare, with an estimated prevalence ranging from 1 in 250,000 to 1 in 600,000 live births globally. While it affects both males and females equally, the severity of Maroteaux-Lamy Syndrome varies significantly between individuals, ranging from rapidly progressing forms to milder, slowly progressing presentations.

Next steps

• Consult a metabolic specialist or geneticist to confirm a diagnosis through enzyme assay or genetic testing.


• Connect with the 3 members of the Maroteaux-Lamy Syndrome community on DiseaseMaps.org to share experiences.


• Inquire with your physician about enzyme replacement therapy (ERT), which can help manage specific symptoms.


• Contact the National MPS Society for resources on disease management and patient advocacy.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Mucopolysaccharidosis type VI.


• Orphanet: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).


• Online Mendelian Inheritance in Man (OMIM): #253200 (MPS6).


• National MPS Society: Resources for MPS VI families.