Carnitine palmitoyltransferase II deficiency - Successful anaplerotic diet therapy
Carnitine palmitoyltransferase II deficiency - Successful anaplerotic diet therapy
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DOI：
10.1212/01.wnl.0000318283.42961.e9
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发表时间：
2008-07-22
期刊：
影响因子：
9.9
通讯作者：
Garritson, B. K.
中科院分区：
文献类型：
--
作者：
Roe, C. R.;Yang, B. -Z.;Garritson, B. K.
背景：肉碱棕榈酰转移酶 II (CPT II) 缺乏是儿童和成人复发性横纹肌溶解症的重要原因。目前的治疗包括限制饮食脂肪、增加碳水化合物摄入量和限制运动以避免肌肉疼痛和横纹肌溶解。方法：CPT II 酶测定、DNA 突变分析、血液和培养成纤维细胞中酰基肉碱的定量分析、尿液有机酸、标准化 36 项简短健康状况调查 (SF-36) 第 2 版以及身体脂肪成分的生物电阻抗。所有患者均采用每日总热量摄入量 30% 至 35% 的三庚酸甘油酯饮食治疗。 结果：对 7 名 CPT II 缺乏症患者进行了为期 7 至 61 个月的三庚酸甘油酯（回补）饮食研究。 5 名患者之前曾出现过横纹肌溶解症，需要住院治疗，并且在饮食前用力时会出现肌肉疼痛（两名年轻患者没有出现过横纹肌溶解症）。在节食期间，只有两名患者在运动时出现轻度肌肉疼痛。在短期不遵守规定的情况下，两名患者因运动而出现横纹肌溶解症。没有人在节食期间出现横纹肌溶解症或住院治疗。所有患者均恢复正常体力活动，包括剧烈运动。运动限制被取消。之前异常的 SF-36 身体综合评分恢复到正常水平，并且在所有 5 名有症状患者的治疗期间持续保持正常水平。 结论：三庚酸饮食似乎是治疗成人型肉碱棕榈酰转移酶 II 缺乏症的有效疗法。
Background: Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis.Methods: CPT II enzyme assay, DNA mutation analysis, quantitative analysis of acylcarnitines in blood and cultured fibroblasts, urinary organic acids, the standardized 36-item Short-Form Health Status survey (SF-36) version 2, and bioelectric impedance for body fat composition. Diet treatment with triheptanoin at 30% to 35% of total daily caloric intake was used for all patients.Results: Seven patients with CPT II deficiency were studied from 7 to 61 months on the triheptanoin (anaplerotic) diet. Five had previous episodes of rhabdomyolysis requiring hospitalizations and muscle pain on exertion prior to the diet ( two younger patients had not had rhabdomyolysis). While on the diet, only two patients experienced mild muscle pain with exercise. During short periods of noncompliance, two patients experienced rhabdomyolysis with exercise. None experienced rhabdomyolysis or hospitalizations while on the diet. All patients returned to normal physical activities including strenuous sports. Exercise restriction was eliminated. Previously abnormal SF-36 physical composite scores returned to normal levels that persisted for the duration of the therapy in all five symptomatic patients.Conclusions: The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency.