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.
