{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:34Z","timestamp":1785183874605,"version":"3.55.0"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"01","funder":[{"name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development, AMED","award":["JP19ek0109273"],"award-info":[{"award-number":["JP19ek0109273"]}]},{"name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development, AMED","award":["JP20ek0109468"],"award-info":[{"award-number":["JP20ek0109468"]}]},{"name":"K.M.","award":["JP19ek0109301"],"award-info":[{"award-number":["JP19ek0109301"]}]},{"name":"Institutional Review Board at the National Center for Child Health and Development","award":["#2020-068"],"award-info":[{"award-number":["#2020-068"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 with an asymmetrical leukodystrophy who showed overt evidence of mitochondrial dysfunction, including elevation of lactate on brain MR spectroscopy and low oxygen consumption rate in fibroblasts. We diagnosed this patient's condition as KARS-related leukodystrophy with cerebral calcification, congenital deafness, and evidence of mitochondrial dysfunction. We employed a ketogenic diet as well as multiple vitamin supplementation with the intention to alleviate mitochondrial dysfunction. The patient showed alleviation of his psychomotor regression and even partial restoration of his abilities within 4 months. This is an early report of a potential disease-modifying therapy for KARS-related progressive leukodystrophy without appreciable adverse effects.<\/jats:p>","DOI":"10.1055\/s-0041-1732446","type":"journal-article","created":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T00:27:25Z","timestamp":1630024045000},"page":"065-068","source":"Crossref","is-referenced-by-count":7,"title":["Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy"],"prefix":"10.1055","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7159-6767","authenticated-orcid":false,"given":"Yuka","family":"Murofushi","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itaru","family":"Hayakawa","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Abe","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuyuki","family":"Ohto","sequence":"additional","affiliation":[{"name":"Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8122-7180","authenticated-orcid":false,"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Keio University Hospital, Shinjuku-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiki","family":"Takenouchi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Keio University Hospital, Shinjuku-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Keio University Hospital, Shinjuku-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8299-4867","authenticated-orcid":false,"given":"Masaya","family":"Kubota","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, 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