We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
- Authors
Doi, Toshiaki; Abo, Wataru; Tateno, Masaru; Hayashi, Kaori; Hori, Tsukasa; Nakada, Toshimasa; Fukao, Toshiyuki; Takahashi, Yukitoshi; Terada, Naoto; Doi, T; Abo, W; Tateno, M; Hayashi, K; Hori, T; Nakada, T; Fukao, T; Takahashi, Y; Terada, N
- Abstract
<bold>Unlabelled: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
DEHYDROGENASES; HYPOGLYCEMIA; TRIGLYCERIDES; HEALTH
- Publication
European Journal of Pediatrics, 2000, Vol 159, Issue 12, p908
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/PL00008368