The group of lysosomal storage diseases includes about 50 pathologies. They are all united by an alteration in the functions of lysosomes, the organelles that should degrade the waste of cellular metabolism. Usually, these alterations are caused by a deficit of the enzymes that regulate its activity. This leads to the accumulation of waste substances inside the lysosomes, damaging the tissues.
Lysosomal storage diseases are systemic, thus affecting multiple organs together. Most of these manifest with the following symptoms:
- enlarged liver and spleen;
- damaged central nervous system;
- altered neurological functions;
- eye problems;
- heart disorders;
- muscular disorders.
The age at which the first symptoms occur may vary, but usually occurs in the pediatric age. Diagnosis starts from clinical observation, followed by laboratory tests and enzyme dosage. In couples of healthy carriers, prenatal diagnosis is possible. In fact, if both are carriers, there is a 25% probability that the child will show the disease. In Fabry's disease and in mucopolysaccharidosis type 2, only males can get sick.
Available therapies vary greatly depending on the specific disease, but for now there is no cure. Among the available therapies are enzyme replacement, bone marrow transplantation and pharmacological treatment to degrade waste substances.