Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency

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• 作者：Jamiyan Purevsuren ; Yuki Hasegawa ; Seiji Fukuda ; Hironori Kobayashi ; Yuichi Mushimoto ; Kenji Yamada ; Tomoo Takahashi ; Toshiyuki Fukao ; Seiji Yamaguchi
• 关键词：Fatty acid oxidation ; Mutation ; Mass screening ; Genotype/phenotype correlation ; MCAD deficiency
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 出版时间：September-October, 2012
• 年：2012
• 卷：107
• 期：1-2
• 页码：237-240
• 全文大小：152 K

文摘

We report the outcome of 16 Japanese patients with medium chain acyl-CoA dehydrogenase deficiency. Of them, 7 patients were diagnosed after metabolic crisis, while 9 were detected in the asymptomatic condition. Of the 7 symptomatic cases, 1 died suddenly, and 4 cases had delayed development. All 9 patients identified by neonatal or sibling screening remained healthy. Of 14 mutations identified, 10 were unique for Japanese, and 4 were previously reported in other nationalities. Presymptomatic detection including neonatal screening obviously improves quality of life of Japanese patients, probably regardless of the genotypes.