Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis (MPSVI), is a lysosomal storage disorder. It’s one of a number of disorders that affects specific enzymes in specific locations. The job of these enzymes is to break down materials so the body’s cells can reuse them.
For example, cells break down sugar to use as energy, and insulin is the key that unlocks the cell wall, allowing the sugar to pass into the cell. Without insulin, blood sugar circulates throughout the body and impacts just about every organ. People with this have either type 1 or type 2 diabetes.
When enzymes are missing, the target of their function can build up in the area of cells called “lysosomes,” and the result is toxicity.
MPSVI doesn’t have a single symptom, but rather the person can have a number of very different symptoms. Babies born with the syndrome don’t usually appear normal at birth; the symptoms are either advancing quickly, or for some, they present over a period of years.
Because it’s such a rare condition, a lot of doctors don’t recognize it, which is a shame, because early diagnoses means early intervention.
One of the hallmarks of MPSVI is a decrease in normal growth between ages 2 and 3. Children with the rapidly advancing type generally do not grow taller than 4 feet, but those with symptoms that are more gradual can reach a more normal height. Clouding of the corneas is another typical symptom, which, if left untreated, can lead to severe visual impairment.
If you, or a loved one, has this rare disease and would like to locate a specialist, MPSVI.com has a clinic locator.
