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Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Authors
  • Kadoya, Takumi
  • Sakakibara, Azumi
  • Kitayama, Kana
  • Yamada, Yuki
  • Higuchi, Shinji
  • Kawakita, Rie
  • Kawasaki, Yuki
  • Fujino, Mitsuhiro
  • Murakami, Yosuke
  • Shimura, Masaru
  • Murayama, Kei
  • Ohtake, Akira
  • Okazaki, Yasushi
  • Koga, Yasutoshi
  • Yorifuji, Tohru
Type
Published Article
Journal
Journal of Pediatric Endocrinology and Metabolism
Publisher
Walter de Gruyter GmbH
Publication Date
Sep 02, 2019
Volume
32
Issue
10
Pages
1181–1185
Identifiers
DOI: 10.1515/jpem-2019-0205
Source
De Gruyter
Keywords
License
Yellow

Abstract

Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. 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’s 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 Q10. 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.

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