Maroteaux Lamy syndrome
Maroteaux-Lamy syndrome (pronounced: ma-roh-TOH LAM-ee sin-drohm), also known as Mucopolysaccharidosis type VI (MPS VI), is a rare genetic disorder characterized by the body's inability to break down certain types of complex carbohydrates, specifically glycosaminoglycans (GAGs). The syndrome is named after the French pediatricians, Pierre Maroteaux and Maurice Lamy, who first described the condition in 1963.
Etymology
The term "Maroteaux-Lamy syndrome" is derived from the names of the French pediatricians who first described the condition, Pierre Maroteaux and Maurice Lamy. The term "Mucopolysaccharidosis type VI" refers to the specific type of mucopolysaccharidosis that characterizes the syndrome. Mucopolysaccharidosis is derived from the Greek words "muco" meaning mucus, "poly" meaning many, and "saccharide" meaning sugar.
Symptoms
The symptoms of Maroteaux-Lamy syndrome can vary greatly from person to person. However, common symptoms include short stature, dysostosis multiplex (a condition that affects the bones), hepatosplenomegaly (enlargement of the liver and spleen), cardiomyopathy (heart disease), and corneal clouding.
Causes
Maroteaux-Lamy syndrome is caused by mutations in the ARSB gene. This gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in breaking down GAGs. Mutations in the ARSB gene disrupt the function of arylsulfatase B, leading to the accumulation of GAGs in cells and tissues throughout the body.
Diagnosis
Diagnosis of Maroteaux-Lamy syndrome is based on a clinical examination, the presence of characteristic symptoms, and specialized tests that measure the levels of the enzyme arylsulfatase B in the blood or urine. Genetic testing can also be used to confirm the diagnosis.
Treatment
There is currently no cure for Maroteaux-Lamy syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy, surgery to manage bone and joint problems, and enzyme replacement therapy to replace the deficient arylsulfatase B enzyme.
See also
External links
- Medical encyclopedia article on Maroteaux Lamy syndrome
- Wikipedia's article - Maroteaux Lamy syndrome
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