Cox G F, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson M S
Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
J Pediatr. 1998 Aug;133(2):247-53. doi: 10.1016/s0022-3476(98)70228-8.
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality. We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia. Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme. Molecular genetic analysis of her VLCAD gene revealed a T1372C (F458L) missense mutation and a 1668 ACAG 1669 splice site mutation. After initial treatment with intravenous glucose and carnitine, the patient has thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting. Her ventricular hypertrophy resolved significantly over 1 year, and cognitively, she is in the superior range for age. Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children.
极长链酰基辅酶A脱氢酶（VLCAD）缺乏症是一种脂肪酸β氧化紊乱疾病，据报道其发病率和死亡率很高。我们描述了一名5岁VLCAD缺乏症女孩的病情转归，她5个月大时首次就诊，患有严重肥厚型心肌病、肝肿大、脑病和肌张力减退。生化研究表明，VLCAD缺乏是由一种稳定但无活性的酶引起的。对她的VLCAD基因进行分子遗传学分析，发现了一个T1372C（F458L）错义突变和一个1668ACAG1669剪接位点突变。在最初接受静脉注射葡萄糖和肉碱治疗后，患者通过食用补充了中链甘油三酯油和肉碱的低脂饮食并避免禁食，茁壮成长。她的心室肥厚在1年内显著消退，认知方面，她处于同龄人中的较高水平。VLCAD缺乏症的临床识别很重要，因为它是儿童心肌病少数几种可直接治疗的病因之一。
