What is Mucolipidosis?

Going through Brielle’s blog, I recognized after her official diagnosis I was so consumed trying to grasp what this disease was going to do to my baby and trying to figure out how I was going to help her live with it; I never gave sufficient information about her disease.

I am far from a scientist; being able to break it down for you is out of my reach. Here is some information I gathered. My next few posts will be about the disease and how it is affecting Brielle. This disease affects each child differently, but very similar for the most part.

The mucolipidosis (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe mental retardation and skeletal deformities.

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Lysosomes play a critical role in the metabolic function of our bodies. One of their primary roles is to pick up substances such as carbohydrates and lipids and break them down into smaller molecules so that they can be used again in the metabolic process. This process is possible because lysosomes contain enzymes, which are proteins that help the body’s chemistry work better and faster. Working continuously, enzymes break down carbohydrates and lipids and assist in the transfer of their byproducts throughout the rest of the cell for the production of energy or excretion.

Patients with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, which are proteins, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to damage of organs. In patients with ML, the molecules accumulate in nerve, liver, and muscle tissue as well as in bone marrow, and this abnormal storage causes the various symptoms associated with ML. For example, excess storage of these molecules in nerve tissues can cause mental retardation, accumulation in the tissues of the spleen and liver can cause poor functioning of these vital organs, and excess storage in the bone marrow can damage bones, leading to skeletal deformities.

ML II is also referred to as inclusion-cell (I-cell) disease because waste products, thought to include carbohydrates, lipids, and proteins, accumulate into masses known as inclusion bodies. When tissues are examined under a microscope, the detection of inclusion bodies often provides a diagnosis of the disease.

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm