Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
J Inherit Metab Dis. 2022 Nov;45(6):1118-1129. doi: 10.1002/jimd.12537. Epub 2022 Jul 17.
Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with medium-chain Acyl-CoA dehydrogenase deficiency (MCADD). We performed a large retrospective observational study using all recorded visits of persons with MCADD in the University Medical Center Groningen, the Netherlands, between October 1994 and October 2019. Frequency and duration of acute unscheduled preventive hospital visits, exercise tolerance, fatigue, and muscle pain were considered important clinical outcomes and were studied in relation to (acyl)carnitine profile and carnitine supplementation status. The study encompassed 1228 visits of 93 persons with MCADD. >60% had SCD during follow-up. This included only persons with severe MCADD. Carnitine supplementation and SCD were unrelated to the frequency and duration of the acute unscheduled preventive hospital visits (P > 0.05). The relative risk for fatigue, muscle ache, or exercise intolerance was equal between persons with and without SCD (RR 1.6, 95% CI 0.48-5.10, P = 0.4662). No episodes of metabolic crisis were recorded in non-carnitine-supplemented persons with MCADD and SCD. In some persons with MCADD, SCD resolved without carnitine supplementation. There is absence of real-world evidence in favor of routine carnitine analysis and carnitine supplementation in the follow-up of persons with MCADD.
我们的目的是研究继发性肉碱缺乏症（SCD）和肉碱补充对中链酰基辅酶 A 脱氢酶缺乏症（MCADD）患者重要结局指标的影响。我们使用荷兰格罗宁根大学医学中心在 1994 年 10 月至 2019 年 10 月期间记录的所有 MCADD 患者就诊信息，进行了一项大型回顾性观察性研究。急性非计划性预防性医院就诊的频率和持续时间、运动耐量、疲劳和肌肉疼痛被认为是重要的临床结局，并与酰基肉碱谱和肉碱补充状态相关进行了研究。该研究共纳入了 93 名 MCADD 患者的 1228 次就诊。在随访期间，超过 60%的患者发生 SCD。这仅包括严重 MCADD 患者。肉碱补充和 SCD 与急性非计划性预防性医院就诊的频率和持续时间无关（P＞0.05）。有和没有 SCD 的患者的疲劳、肌肉酸痛或运动不耐受的相对风险相等（RR 1.6，95%CI 0.48-5.10，P=0.4662）。在没有接受肉碱补充的 SCD MCADD 患者中，没有记录到代谢危象发作。在一些 MCADD 患者中，SCD 无需肉碱补充即可缓解。在 MCADD 患者的随访中，没有真实世界的证据支持常规进行肉碱分析和肉碱补充。
