BOLILE DE TEZAURIZARE LIZOZOMALĂ.

Lysosomal storage disorders comprise a group of over 40 different diseases that are caused by genetic defects of lysosomal enzymes, resulting in the accumulation of incompletely digested substrates within the lysosome, and, consequently, in the increasing impairement of cellular function. As cells become filled with storage material, the whole organ may enlarge. Although different predominances of involvement are characteristic for individual disorders, the three systems primarily affected are the connective tissue, nervous tissue and parenchymatous organs. However, the idea that all lysosomal storage disorders generally cause visceromegaly and characteristic skeletal changes is a misconception. A substantial number affect predominantly, or even exclusively, the central nervous system, causing chronic progressive neurologic and psychiatric dysfunction. Inheritance is autosomal recessive with the exception of mucopolysaccharidosis type II/( Hunter disease) and Fabry disease, a sphingolipidosis in which the affected genes are located on the X-chromosome. [ABSTRACT FROM AUTHOR]