Derks Terry G J, Reijngoud Dirk-Jan, Waterham Hans R, Gerver Willem-Jan M, van den Berg Maarten P, Sauer Pieter J J, Smit G Peter A
Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
J Pediatr. 2006 May;148(5):665-670. doi: 10.1016/j.jpeds.2005.12.028.
To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency.
Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight.
Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent.
描述一大群中链酰基辅酶A脱氢酶（MCAD）缺乏症患者的临床表现及长期随访情况。
对155例荷兰MCAD缺乏症患者的临床表现及随访情况进行全国性回顾性分析。
大多数患者在3个月至5.1岁之间发病；13%的患者在新生儿期出现症状，并非完全与母乳喂养有关。诊断前急性发病的患者死亡率为22%（25/114），而诊断后21%（19/89）的患者出现残疾。随访时，共有44例患者报告有疲劳（35%；28/80）、肌肉疼痛（31%；25/80）和/或运动耐量下降（39%；31/80）。对11例成年患者的心脏评估显示，心脏功能无异常可解释这些症状。MCAD缺乏症患儿很容易超重。
未确诊的MCAD缺乏症患儿死亡率和发病率较高；确诊可显著改善预后。令人惊讶的是，诊断并开始治疗后，超重和慢性症状（疲劳、肌肉疼痛和运动耐量下降）较为突出。
