Kamel Amir Y, Ruiz Nicole C, Murray Melissa R, Gayle Ansley M, Pham Angela, Beduschi Thiago, Rosenthal Martin D
Department of Pharmacy, University of Florida Health Hospital, Gainesville, FL.
Department of Internal Medicine, University of Florida Health Hospital, Gainesville, FL.
ACG Case Rep J. 2022 Jun 20;9(6):e00799. doi: 10.14309/crj.0000000000000799. eCollection 2022 Jun.
Carnitine is an essential cofactor for fatty acid metabolism. Deficiencies can be associated with muscle weakness, fatigue, weight loss, and cardiomyopathies. A 27-year-old woman with short bowel syndrome (SBS) presented with significant weight loss, fatigue, and muscle wasting despite adequate parenteral nutrition. Her laboratory test results revealed carnitine deficiency secondary to malnutrition. Levocarnitine supplementation was initiated with normalization of her carnitine levels. Her fatigue improved, and her weight returned to baseline. Carnitine deficiencies are seldomly reported in adults, particularly those with SBS. Carnitine deficiency should be suspected and corrected in patients with SBS and malabsorptive capacity due to surgical resection.
肉碱是脂肪酸代谢所必需的辅助因子。缺乏肉碱可能与肌肉无力、疲劳、体重减轻和心肌病有关。一名27岁的短肠综合征（SBS）女性患者，尽管接受了充足的肠外营养，但仍出现了显著的体重减轻、疲劳和肌肉萎缩。她的实验室检查结果显示，由于营养不良导致肉碱缺乏。开始补充左卡尼汀后，她的肉碱水平恢复正常。她的疲劳症状有所改善，体重也恢复到了基线水平。成人中很少报道肉碱缺乏症，尤其是患有短肠综合征的患者。对于因手术切除导致短肠综合征和吸收不良的患者，应怀疑并纠正肉碱缺乏症。
