caa a22 4500 475785010 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20001101xx s 000 0 eng 10.1007/PL00008368 doi (NATIONALLICENCE)springer-10.1007/PL00008368 Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy [Elektronische Daten] [Toshiaki Doi, Wataru Abo, Masaru Tateno, Kaori Hayashi, Tsukasa Hori, Toshimasa Nakada, Toshiyuki Fukao, Yukitoshi Takahashi, Naoto Terada] We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a fatty liver at biopsy suggesting a diagnosis of VLCAD deficiency. Conclusion The diagnosis of very long-chain acyl-CoA dehydrogenase deficiency was supported by the results of acyl-CoA dehydrogenase activity for C8 and C16 fatty acids in skin fibroblasts from the patient. Treatment with medium chain triglycerides and l-carnitine in the diet improved his hepatomegaly and cardiomegaly. Springer-Verlag Berlin Heidelberg, 2000 Key words Cardiomegaly nationallicence Fatty liver nationallicence Hepatomegaly nationallicence Hypoglycaemia nationallicence Very long-chain acyl-CoA dehydrogenase nationallicence AbbreviationVLCAD very-long-chain acyl-CoA dehydrogenase nationallicence Doi Toshiaki Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Abo Wataru Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Tateno Masaru Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Hayashi Kaori Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Hori Tsukasa Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Nakada Toshimasa Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut Fukao Toshiyuki Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, JP aut Takahashi Yukitoshi Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, JP aut Terada Naoto Department of Paediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, JP aut https://doi.org/10.1007/PL00008368 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008368 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Doi Toshiaki Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Abo Wataru Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Tateno Masaru Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Hayashi Kaori Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Hori Tsukasa Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Nakada Toshimasa Department of Paediatrics, Aomori Central Hospital, 2-1-1, Higashi-Tsukurimichi, Aomori 030-8553, Japan e-mail: abo523@jomon.ne.jp Tel.: +81-17-7268245, Fax: +81-17-7261885, JP aut NATIONALLICENCE 700 1- Fukao Toshiyuki Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, JP aut NATIONALLICENCE 700 1- Takahashi Yukitoshi Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, JP aut NATIONALLICENCE 700 1- Terada Naoto Department of Paediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer