Abstract
Lysosomal storage disorders are rare, hereditary illnesses caused by defective activity of some of the lysosomal enzymes, transport proteins or cofactors. The first signs can appear both soon after birth and in late adulthood, early onset forms being often severe, with rapid progression and hopeless prognosis.
The disease is a multisystem one and is characterized by permanent progression of symptoms and by affection of many organs and tissues. Most often, metabolically active organs and tissues are affected, such as the central nervous system, liver, myocardium, and muscles.
The diagnosis can be confirmed by demonstrating low activity of a given enzyme and/or by molecular genetic evaluation. Some of the storage diseases can be treated effectively with recombinant enzymes applied intravenously on a regular basis or by reducing the amount of stored substrate.
A small number of patients with lysosomal storage disorders can profit from bone marrow transplants. Given the multisystem nature of the disease, interdisciplinary approach is warranted, including genetic counseling and prenatal evaluation in the patients' families.
Currently, about 70 types of lysosomal storage disorders are being diagnosed, Gaucher disease being one of those known for the longest time period. Gaucher disease is characterized by lysosomal storage of glucocerebroside in the cells of macrophageal origin.
Storage is pronounced the most in the reticuloendothelial system of the spleen and bone marrow and in the liver parenchyma. Specific therapy is available, consisting of the application of recombinant enzymes with comparable and very favorable effect.