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Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy |
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| Authors: | Toshiaki Doi Wataru Abo Masaru Tateno Kaori Hayashi Tsukasa Hori Toshimasa Nakada Toshiyuki Fukao Yukitoshi Takahashi Naoto Terada |
| Affiliation: | (1) 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;(2) Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, JP;(3) Department of Paediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, JP |
| Abstract: | 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. Received: 17 April 2000 / Accepted: 5 July 2000 |
| Keywords: | Cardiomegaly Fatty liver Hepatomegaly Hypoglycaemia Very long-chain acyl-CoA dehydrogenase |
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