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关于卡尼丁棕转移酶II缺乏症的经验:肌病性形式的诊断挑战

Havva Yazıcı1, Gunes Ak2, Merve Yoldas Çelik1

  • 1Department of Inborn Errors of Metabolism, Ege University Faculty of Medicine, Izmir, Türkiye.

Journal of pediatric endocrinology & metabolism : JPEM
|November 5, 2023
PubMed
概括

卡尼丁棕基转移酶II (CPT II) 缺乏,脂肪酸氧化障碍,可以导致复发性狂犬病. 基因分析对于诊断至关重要,即使是正常的甲蛋白样本,也有助于理解这种肌病性形式.

关键词:
在 CPT II 中.乙卡尼丁酸盐是一种脂肪酸氧化障碍 脂肪酸氧化障碍代谢性肌肉病变 - 代谢性肌肉病变拉布多米溶解 (rhabdomyolysis) 是一种治疗方法.

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