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Cardiac and cerebrovascular abnormalities as well as progressive renal failure are severe, life\u2010threatening long\u2010term complications. The complete pathophysiology of chronic kidney disease (CKD) in FD and the role of tubular involvement for its progression are unclear. We established human renal tubular epithelial cell lines from the urine of male FD patients and male controls. The renal tubular system is rich in mitochondria and involved in transport processes at high\u2010energy costs. Our studies revealed fragmented mitochondria with disrupted cristae structure in FD patient cells. Oxidative stress levels were elevated and oxidative phosphorylation was upregulated in FD pointing at enhanced energetic needs. Mitochondrial homeostasis and energy metabolism revealed major changes as evidenced by differences in mitochondrial number, energy production and fuel consumption. The changes were accompanied by activation of the autophagy machinery in FD. Sirtuin1, an important sensor of (renal) metabolic stress and modifier of different defense pathways, was highly expressed in FD. Our data show that lysosomal FD impairs mitochondrial function and results in severe disturbance of mitochondrial energy metabolism in renal cells. This insight on a tissue\u2010specific level points to new therapeutic targets which might enhance treatment efficacy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12373","type":"journal-article","created":{"date-parts":[[2021,3,4]],"date-time":"2021-03-04T15:41:10Z","timestamp":1614872470000},"page":"1039-1050","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7958-0188","authenticated-orcid":false,"given":"Anke","family":"Schumann","sequence":"first","affiliation":[{"name":"Department of General Paediatrics, Adolescent Medicine and Neonatology Medical Center\u2010University of Freiburg, Faculty of Medicine Freiburg 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