Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.
Lysosomal storage disorders (LSDs) represent a large and heterogeneous group of inborn errors of metabolism with a rare incidence for the single disease but a respectable overall incidence of 1 in 7700 live births. Neurological involvement in LSDs is quite common and in the last years knowledge about the pathology and clinical course of LSDs has been rapidly increased. Enormous progress has been made in the treatment of LSDs by enzyme replacement, substrate reduction and research on gene therapy. This review aims to describe the progress made as well as the present limitations in this particular field of metabolic medicine. It focuses on those storage disorders with major neurological symptoms or complications where treatment is already available (Gaucher disease, Fabry disease, mucopolysaccharidosis type I) or predictable (Pompe disease, MPS II, MPS IV, MPS VI).
Hoffmann
B
B
Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Germany. hoffmann@med.uni-duesseldorf.de
Mayatepek
E
E
D006801:Humans; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy*; D009460:Neurologic Examination