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
Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Department of Genetic Medicine, Osaka City General Hospital, Osaka, Japan.
J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1181-1185. doi: 10.1515/jpem-2019-0205.
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.
线粒体酰基辅酶A脱氢酶9（ACAD9）缺乏是呼吸链复合体I缺乏的常见原因之一，其特征为心肌病、乳酸性血症和肌肉无力。婴儿型心肌病是最常见的表型，通常在5岁前致死。已知核黄素治疗对约65%的患者有效；然而，其余患者对核黄素无反应，需要额外的治疗措施。在本报告中，我们描述了一名ACAD9缺乏患者，该患者在8个月大时出现进行性心肌病。在1岁8个月时，患者的左心室射血分数（LVEF）持续降至45.4%，于是在使用β受体阻滞剂和辅酶Q10的同时引入了丙酮酸钠治疗。这导致病情稳步改善，心脏功能完全且持续恢复正常，无需使用核黄素。因此，该疗法可能是治疗ACAD9缺乏的一种有用补充。
