Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency
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DOI：
10.1016/j.ymgme.2012.06.010
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发表时间：
2012-09-01
影响因子：
3.8
通讯作者：
Yamaguchi, Seiji
中科院分区：
文献类型：
--
作者：
Purevsuren, Jamiyan;Hasegawa, Yuki;Yamaguchi, Seiji
我们报告了16例日本患者中链酰基辅酶A脱氢酶缺乏症的结果。其中，7例患者在代谢危象后被诊断，而9例患者在无症状状态下被检测到。7例有症状的病例中，1例突然死亡，4例延迟发展。通过新生儿或同胞筛查确定的所有9例患者均保持健康。在鉴定的14种突变中，10种是日本人特有的，4种以前在其他民族中报道过。包括新生儿筛查在内的症状前检测明显改善了日本患者的生活质量，可能与基因型无关。(C)2012 Elsevier Inc. All rights reserved.
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. (C) 2012 Elsevier Inc. All rights reserved.