Friday, October 22, 2010

Maroteaux-Lamy Syndrome

I admit that I don't know much about Maroteaux-Lamy Syndrome. I learned about it during medical school, and that's the extent of my knowledge. However, I was intrigued when someone brought it to my attention recently, so I did a search and landed on this description on Wikipedia:

Maroteaux–Lamy syndrome (also known as "Mucopolysaccharidosis type VI") is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).

It is named for Pierre Maroteaux and Maurice Lamy.

Children with MPS VI, Maroteaux–Lamy syndrome, usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.

Growth is normal at first but stops suddenly around age 8. By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic region) are progressive and limit movement. Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction.

An enzyme replacement therapy, galsulfase (Naglazyme), was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain. Costing $350,000 a year, Naglazyme is one of the world's most expensive drugs.

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