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.
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