Bougnères P F, Rocchiccioli F, Kølvraa S, Hadchouel M, Lalau-Keraly J, Chaussain J L, Wadman S K, Gregersen N
J Pediatr. 1985 Jun;106(6):918-21. doi: 10.1016/s0022-3476(85)80237-7.
An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. At the time of the acute episode and after ingestion of a medium-chain triglyceride load, one of them excreted large amounts of abnormal metabolites derived from the omega- and (omega-1)-oxidation of medium-chain fatty acids. Medium-chain acyl-CoA dehydrogenase activity was lower than 20% of control values in fibroblasts from both patients. This enzyme defect should be considered in children with a Reye-like syndrome with these distinctive manifestations.
越来越多的报告表明，一些患有遗传性代谢疾病的患者可能出现类似瑞氏综合征的症状。我们描述了两名分别在16个月和18个月大时，在病毒感染和水杨酸盐治疗后患上类似瑞氏综合征的兄弟姐妹。两人均出现空腹低血糖和低酮血症。在急性发作期以及摄入中链甘油三酯负荷后，其中一人排泄出大量源自中链脂肪酸ω-氧化和（ω-1）氧化的异常代谢产物。两名患者成纤维细胞中的中链酰基辅酶A脱氢酶活性均低于对照值的20%。对于具有这些独特表现的类似瑞氏综合征的儿童，应考虑这种酶缺陷。
