Original paper
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
Abstract
KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature and psychomotor regression, and follow a rapid regressive course to premature death. There has been no disease-modifying therapy beyond supportive treatment. We present a 5-year-old male patient...
Paper Details
Title
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
Published Date
Aug 26, 2021
Journal
Volume
53
Issue
01
Pages
065 - 068
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Notes
History