PDF(Pubmed)
Abstract：
Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long-chain fatty acids across the inner mitochondrial membrane for β-oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has been closely monitored and we now report results from a 10-year follow-up study of 139 PCD patients. Four patients have died of natural causes since diagnosis. There were no signs of cardiac complications related to PCD. 70.5% reported an effect of L-carnitine treatment. 33.7% reported current symptoms with fatigue and low stamina being the most common. 65.1% had experienced side effects during L-carnitine treatment. Most common side effects were fish odor, abdominal pain, and diarrhea. The overall mean L-carnitine dosage was 66.3 mg/kg/day. Free p-carnitine was similar between male and female patients on L-carnitine-18.6 and 18.8 μmol/L, respectively. L-carnitine supplementation seems to be a safe and effective treatment when suffering from PCD. PCD patients in the Faroe Islands are alive and doing well more than 10 years after diagnosis.
摘要：
原发性肉碱缺乏症(PCD)可能是致命的。肉碱对于长链脂肪酸穿过线粒体内膜进行β-氧化是必不可少的。据报道，法罗群岛的PCD患病率为1:300，是世界上最高的。法罗群岛PCD患者队列已受到密切监测，我们现在报告了139名PCD患者的10年随访研究结果。自诊断以来，已有四名患者死于自然原因。没有与PCD相关的心脏并发症的迹象。70.5%报道了左旋肉碱治疗的效果。33.7％的人报告了当前症状，疲劳和耐力低下是最常见的。65.1％的人在左旋肉碱治疗期间出现副作用。最常见的副作用是鱼的气味，腹痛,和腹泻。总平均L-肉碱剂量为66.3mg/kg/天。左旋肉碱18.6和18.8μmol/L的男性和女性患者之间的游离对肉碱相似。分别。当患有PCD时，补充左旋肉碱似乎是一种安全有效的治疗方法。法罗群岛的PCD患者在诊断后超过10年还活着并且表现良好。
