MUCOLIPIDOSIS

What is Mucolipidosis?


Mucolipidosis (ML) is a disease of the lysosomes.  Lysosomes are the recycling plants of our cells--places where large and complex molecules are broke down to constituent parts, to be reused or disposed.  Within the lysosomes, there are several dozen enzymes that carry out this breakdown of complex molecules.  In ML, many of the enzymes are either missing completely from the lysosomes or are present in inadequate amounts.  Instead, they are found outside of the cell in excessive amounts in the blood.  That happens because, when they are first made (in other parts of the cell), these enzymes must be equipped with a signal that guides them to lysosomes.  In ML, signals are not attached to enzymes and, failing to reach lysosomes, are secreted out of the cell instead.  The major problem is the deficiency of these enzymes within lysosomes causing an accumulation of molecules that should have been broken down.  The accumulation (or GUNK as our family calls it), causes progressive damage to the skeletal and organ systems.  Due to this damage, Madison has had both of her hips and both of her knees replaced along with other numerous surgeries to improve her quality of life  There are currently an estimated 50 people alive in the world today with ML.