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Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. In this report, we describe a patient with ACAD9 deficiency who developed progressive cardiomyopathy at 8 months of age. As the patient\u2019s left ventricular ejection fraction (LVEF) kept decreasing to 45.4% at 1 year 8 months, sodium pyruvate treatment was introduced together with a beta-blocker and coenzyme Q<jats:sub>10<\/jats:sub>. This resulted in a steady improvement, with full and sustained normalization of cardiac function without riboflavin. The therapy, therefore, might be a useful addition for the treatment of ACAD9 deficiency.<\/jats:p>","DOI":"10.1515\/jpem-2019-0205","type":"journal-article","created":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T09:54:31Z","timestamp":1567331671000},"page":"1181-1185","source":"Crossref","is-referenced-by-count":11,"title":["Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q<sub>10<\/sub>"],"prefix":"10.1515","volume":"32","author":[{"given":"Takumi","family":"Kadoya","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azumi","family":"Sakakibara","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kana","family":"Kitayama","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Higuchi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rie","family":"Kawakita","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"},{"name":"Department of Genetic Medicine , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Fujino","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Murakami","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Division of Metabolism, Chiba Children\u2019s Hospital , Chiba , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Division of Metabolism, Chiba Children\u2019s Hospital , Chiba , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ohtake","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine , Saitama Medical University , Saitama , Japan"},{"name":"Center for Intractable Diseases , Saitama Medical University Hospital , Saitama , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine , Juntendo University , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasutoshi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health , Kurume University School of Medicine , Kurume , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Yorifuji","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center , Osaka City General Hospital , Osaka , Japan"},{"name":"Department of Genetic Medicine , Osaka City General Hospital , Osaka , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"key":"2023040101010085306_j_jpem-2019-0205_ref_001_w2aab3b7c13b1b6b1ab1b7b1Aa","doi-asserted-by":"crossref","unstructured":"He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, et al. 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