Klinik: 

Definition: Diese Gruppe von Erkrankungen ist durch eine Anreicherung indermediärer Stoffwechselprodukte in den Lysosomen gekennzeichnet. Die Ursache bilden Defekte der abbauenden Enzyme oder der Membrantransporter. Mikroskopisch finden sich große Vakuolen in den Zellen, die deformierten Lysosomen. Da Lysosomen wichtige Organellen in fast allen Körperzellen sind, so wird die Symptomatik durch vielfältige Schädigungen verschiedener Organsysteme geprägt.

Literatur: 

Staretz-Chacham O et al. (2009) Lysosomal storage disorders in the newborn.
Gagliardi C et al. (2009) Large animal models of neurological disorders for gene therapy.
Haskins M et al. (2009) Gene therapy for lysosomal storage diseases (LSDs) in large animal models.
Walkley SU et al. (2009) Pathogenic cascades in lysosomal disease-Why so complex?
Schoser B et al. (2008) Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Cornell RA et al. (2008) A double TRPtych: six views of transient receptor potential channels in disease and health.
Lübke T et al. (2009) Proteomics of the lysosome.
Yu RK et al. (2009) The role of glycosphingolipid metabolism in the developing brain.
Malm D et al. (2008) Alpha-mannosidosis.
Winslow AR et al. (2008) Autophagy in neurodegeneration and development.
Goldman SA et al. (2008) Stem cell-based strategies for treating pediatric disorders of myelin.
Smith EL et al. (2008) The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
Breunig F et al. () Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.
Jakóbkiewicz-Banecka J et al. (2007) Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.
Kemper AR et al. (2007) Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.
Giugliani R et al. (2007) Management guidelines for mucopolysaccharidosis VI.