Maroteaux-Lamy Syndrome is a rare genetic disorder that affects the metabolism of certain sugars. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The syndrome is caused by mutations in the ARSB gene. Genetic counseling and testing can help determine the risk of passing on the syndrome to future generations.
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 caused by a deficiency of the enzyme arylsulfatase B, which is responsible for breaking down GAGs in the body.
Yes, Maroteaux-Lamy Syndrome is hereditary. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop the syndrome.
Individuals with Maroteaux-Lamy Syndrome typically have a family history of the condition, with affected siblings or parents. However, in some cases, the syndrome may occur spontaneously due to a new mutation in the gene responsible for producing arylsulfatase B.
It is important for individuals with a family history of Maroteaux-Lamy Syndrome to undergo genetic counseling and testing to determine their carrier status. This can help in understanding the risk of passing on the syndrome to future generations.
Early diagnosis and intervention are crucial in managing Maroteaux-Lamy Syndrome. Treatment options may include enzyme replacement therapy, which can help alleviate some of the symptoms and improve quality of life for affected individuals.