Bennett M J, Hale D E, Pollitt R J, Stanley C A, Variend S
Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center at Dallas, USA.
Clin Cardiol. 1996 Mar;19(3):243-6. doi: 10.1002/clc.4960190320.
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 fibroblasts from both parents demonstrated levels of carnitine uptake at 50% of the normal rate. This is consistent with heterozygosity for the plasma membrane carnitine transporter defect, indicating likely homozygosity for this recently recognized inborn error in the index patient.
心内膜弹力纤维增生症（EFE）此前已被证明与组织肉碱缺乏有关，尽管肉碱缺乏的原因尚未有文献记载。本报告介绍了一名具有EFE典型特征且心肌、骨骼肌和肝脏中肉碱明显缺乏的患者。来自父母双方的培养皮肤成纤维细胞显示肉碱摄取水平为正常速率的50%。这与质膜肉碱转运体缺陷的杂合性一致，表明该指数患者可能为这种最近发现的先天性代谢缺陷的纯合子。
