Pediatric nephrology (Berlin, Germany)HumansFemaleProteinuriaAdultKidney Tubules
Unveiling long-standing low-molecular-weight proteinuria: A proximal tubular mitochondrial enzyme impairment caused by EHHADH mutation.
Hiroshi Tanaka, Toshiyuki Imasawa, Koji Tsugawa, Yuta Inoki, Morito Endo, Kandai Nozu
Published: 202610.1007/s00467-025-07020-9
Abstract
The energy requirement of renal proximal tubular cells depends on mitochondrial fatty acid β-oxidation. Enoyl-CoA hydratase-l-3-hydroxyacyl-CoA dehydrogenase (EHHADH) is a crucial enzyme in mitochondrial fatty acid oxidation, and mutations in EHHADH…
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