What are lysosomal storage diseases?
Lysosomal storage diseases are genetic disorders resulting from mutations in genes coding for proteins involved in the degradation of normal body compounds, including lipids, proteins and complex carbohydrates. While most lysosomal disorders are caused by defects in genes coding for enzymes, some are caused by defects in genes coding for transport proteins, activator proteins, protective proteins or enzymes involved in the processing of lysosomal enzymes or substrates. The lack of one of these proteins leads to the accumulation of undegraded compounds which can disrupt the normal functioning of the cells involved. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
