Disorders in lysosomal catabolism of sphingolipids, so-called sphingolipidoses, have been studies for many decades at the University of Amsterdam.
In 1972, professors Piet Borst and Joseph Tager firstly initiated biochemical research on Fabry disease, which was followed by investigations on other lysosomal storage disorders (LSDs) like Pompe disease, Gaucher disease, Farber disease and Niemann-Pick disease. Biochemical research in this area has been continued and extended by professor Hans Aerts and dr. Rolf Boot. Clinical research in the Amsterdam UMC was started in 1989 by professor Robert Goudsmit with application of enzyme replacement therapy for Gaucher disease. Professor Carla Hollak has succesfully established and extended this research line, which was broadened to Fabry disease and Niemann-Pick disease. Dr. Gabor Linthorst and dr. Marieke Biegstraaten were part of her group for several years and recently dr. Mirjam Langeveld joined her group. Professor Frits Wijburg broadened the Amsterdam UMC interest in LSDs further to mucopolysacharidoses (MPS), in which secondary sphingolipid accumulation also often occurs. The natural history of various forms of MPS has been investigated and treatments based on bone marrow transplantation and/or enzyme replacement therapy are applied. Professor Mario Maas has introduced state-of-the-art radiological assessments for LSD patients. Laboratory diagnosis at the level of enzymes and genes were made available in the Amsterdam UMC by dr. Ben Poorthuis, now replaced by dr. André van Kuilenberg, and professor Marcel Mannens, respectively.
