Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2
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DOI：
10.1023/a:1025968502527
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发表时间：
2003-01-01
影响因子：
4.2
通讯作者：
Mayatepek, E
中科院分区：
文献类型：
--
作者：
Spiekerkoetter, U;Huener, G;Mayatepek, E
描述了一个土耳其血统的家庭，其父亲和他的两个儿子患有原发性系统性肉毒碱缺乏症。所有三个个体的 OCTN2 基因 (R471H) 均存在相同的纯合突变，并且成纤维细胞对肉碱的摄取不足。一名男孩在婴儿期就出现了类似雷氏综合症的肝病和脑病症状，而其他受影响的家庭成员分别直到目前 28 岁和 5 岁才出现症状。
A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present and carnitine uptake in fibroblasts was deficient. Whereas one boy became symptomatic with a Reye-syndrome-like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively.