Carnitine palmityltransferase II (CPT2) deficiency and migraine headache: Two case reports
Carnitine palmityltransferase II (CPT2) deficiency and migraine headache: Two case reports
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DOI：
10.1046/j.1526-4610.2003.03095.x
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发表时间：
2003-05-01
期刊：
影响因子：
5
通讯作者：
Hershey, AD
中科院分区：
文献类型：
--
作者：
Kabbouche, MA;Powers, SW;Hershey, AD
背景-偏头痛很常见，有多种病因。许多线粒体异常被描述为偏头痛，线粒体功能障碍被认为是一种潜在的病理生理机制。肉碱被线粒体用来运输脂肪酸；然而，它的缺乏与偏头痛的病理生理无关。方法和结果-两名少女被送往辛辛那提儿童医院医学中心的头痛中心，经常头痛，并被国际头痛协会(IHS)诊断为偏头痛。两个女孩都有反复疲劳、肌肉痉挛和预防性治疗的多种副作用的病史。测量了肉碱水平，发现肉碱水平很低。开始补充肉碱。两名患者的头痛频率都有所减少，相关症状和其他主诉也有所改善。从一名患者的皮肤和肌肉活检中发现，肌肉中只有部分肉碱棕榈基转移酶II缺乏。结论-肉碱棕榈基转移酶II缺乏可能是偏头痛的另一种病因，可能有助于进一步确定偏头痛的病理生理学。如果正确认识，补充肉碱可以改善偏头痛的结果以及肉碱相关的症状。
Background.-Migraine headache is common and has multiple etiologies. A number of mitochondrial anomalies have been described for migraine, and mitochondrial dysfunction has been implicated as one potential pathophysiological mechanism. Carnitine is used by mitochondria for fatty acid transportation; its deficiency, however, has not been implicated in migraine pathophysiology.Methods and Results.-Two adolescent girls presented to the Headache Center at Cincinnati Children's Hospital Medical Center with frequent headaches and were diagnosed with migraine by the International Headache Society (IHS) criteria. Both girls had a history of recurrent fatigue, muscle cramps, and multiple side effects from their prophylactic treatment. Carnitine levels were measured and found to be low. Carnitine supplementation was initiated. Both patients had a reduction in headache frequency, as well as an improvement in their associated symptoms and other complaints. A skin and muscle biopsy obtained from one patient revealed a partial carnitine palmityltransferase II deficiency in the muscle only.Conclusion.-Carnitine palmityltransferase II deficiency may represent another etiology for migraine headache, and may be useful in further defining the pathophysiology of migraine. When properly recognized, supplementation with carnitine may improve the outcome of the migraine as well as the carnitine-associated symptoms.