Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
复制标题
由于质膜肉碱转运蛋白缺陷导致心内膜弹力纤维增生症和原发性肉碱缺乏。
DOI：
10.1002/clc.4960190320
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发表时间：
1996
影响因子：
2.7
通讯作者：
Variend,S
中科院分区：
文献类型：
--
作者：
Bennett,MJ;Hale,DE;Pollitt,RJ;Stanley,CA;Variend,S
心内膜弹力纤维增生症(EFE)以前被证明与组织肉碱缺乏有关，尽管肉碱缺乏的基础还没有文献记载。本文报告一例典型的EFE患者，其心肌、骨骼肌和肝脏肉碱明显缺乏。双亲培养的皮肤成纤维细胞显示，肉碱摄取率为正常水平的50%。这与质膜肉碱转运蛋白缺陷的het-erozyy是一致的，这表明在指标患者中这一最近被确认的先天性错误可能是纯合的。
Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented. A patient with the classical features of EFE and marked deficiency of carnitine in heart muscle, skeletal muscle, and liver is presented in this report. Cultured skin fibro‐blasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with het‐erozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.