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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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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.

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Authors and Affiliations

  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

    Toshiaki Doi, Wataru Abo, Masaru Tateno, Kaori Hayashi, Tsukasa Hori & Toshimasa Nakada

  2. Department of Paediatrics, Gifu University School of Medicine, Gifu, Japan, , , , , , JP

    Toshiyuki Fukao & Yukitoshi Takahashi

  3. Department of Paediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, , , , , , JP

    Naoto Terada

Authors
  1. Toshiaki Doi
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  2. Wataru Abo
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  3. Masaru Tateno
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  4. Kaori Hayashi
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  5. Tsukasa Hori
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  6. Toshimasa Nakada
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  7. Toshiyuki Fukao
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  8. Yukitoshi Takahashi
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  9. Naoto Terada
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Additional information

Received: 17 April 2000 / Accepted: 5 July 2000

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Doi, T., Abo, W., Tateno, M. et al. Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy. Eur J Pediatr 159, 908–911 (2000). https://doi.org/10.1007/PL00008368

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  • DOI: https://doi.org/10.1007/PL00008368

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