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Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate



Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Causes


A deficiency in the enzyme arylsulfatase B basically causes the disease. It is genetic and is transmitted from parents to children.


Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Definition


Affecting one in 100,000 people, Maroteaux-Lamy syndrome is a rare genetic disorder affecting one in 100,000 people wherein the enzyme arylsulfatase B is missing. The enzyme normally breaks down the mucopolysaccharides dermatan sulfate and without it mucopolysaccharides build up in all tissues in the body causing progressive deterioration and eventual death. Doctors Maroteaux and Lamy first described the disease in 1963.


Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Symptoms and Signs


Babies normally develop during the first two years but once the build up starts, symptoms would begin to appear on the third year of life. Unlike other forms of MPS, children with the disease do not experience mental retardation. Other physical manifestations include coarse-featured faces, thick nostrils and lips, dwarfism, and claw hand deformities.


Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Treatment


Since Maroteaux-Lamy is a genetic disease, it is difficult to cure. However, current approaches include genetic counseling for parents who are carriers of the disease.


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