NICOLETTI A.

Lysosomal storage disorders (LSDs) are a heterogeneous group of inborn errors of metabolism caused by inherited deficiencies of any of the lysosomal functions, leading to the accumulation of undegraded substrates in multiple tissues and organs. Two-third of LSDs involves the central nervous system, thus representing themost common cause of...

The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders caused by deficiency of enzymes catalyzing the stepwise degradation of glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate, and hyaluronic acid. There are seven groups of MPS, which are MPS-I (MPS-I-H or Hurler syndrome;...

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the a-galactosidase A gene on chromosome Xq22, resulting in a-galactosidase A enzyme deficiency. It is characterized by progressive accumulation of lipids (e.g., globotriaosylceramide) in the lysosomes of a variety of cell types, including neural...

Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in...