Is Maroteaux-Lamy Syndrome hereditary?

Maroteaux-Lamy syndrome, also known as Mucopolysaccharidosis type VI (MPS VI), is an inherited genetic condition caused by mutations in the ARSB gene. It follows an autosomal recessive inheritance pattern, meaning a child must inherit one faulty gene copy from each parent to develop the disorder.

Is Maroteaux-Lamy syndrome hereditary?

Yes, Maroteaux-Lamy syndrome is strictly a genetic condition. It is hereditary because it is passed from parents to children through their DNA. It is not caused by environmental factors or anything the parents did during pregnancy. Because it is autosomal recessive, parents of an affected child are typically asymptomatic carriers, each possessing one functional copy and one mutated copy of the ARSB gene.

What is the risk of recurrence for siblings?

When both parents are carriers of the ARSB gene mutation, the recurrence risk for each pregnancy is as follows:

• 25% chance the child will have Maroteaux-Lamy syndrome.


• 50% chance the child will be an asymptomatic carrier (like the parents).


• 25% chance the child will inherit two normal copies of the gene.

How is genetic testing utilized for this condition?

Genetic testing is the definitive method for confirming a diagnosis of Maroteaux-Lamy syndrome. It involves sequencing the ARSB gene to identify pathogenic variants. De novo (spontaneous) mutations are extremely rare in Maroteaux-Lamy syndrome; nearly all cases result from inherited mutations. For families with a known mutation, genetic counseling is essential to discuss carrier testing for relatives and options for prenatal diagnosis or preimplantation genetic testing (PGT) during IVF.

Next steps

• Consult a clinical geneticist to confirm your specific ARSB variants.


• Request a referral for genetic counseling before planning future pregnancies.


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


• Visit the National MPS Society website for resources on disease management and support.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Maroteaux-Lamy syndrome


• Orphanet: Mucopolysaccharidosis type VI


• OMIM (Online Mendelian Inheritance in Man): ARSB gene entry #611542


• National MPS Society: MPS VI Resource Library