van Maldegem B T, Kloosterman S F, Janssen W J, Augustijn P B, van der Lee J H, Ijlst L, Waterham H R, Duran R, Wanders R J A, Wijburg F A
Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Neuropediatrics. 2011 Feb;42(1):13-7. doi: 10.1055/s-0031-1275342. Epub 2011 Apr 15.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay and/or epilepsy. Most SCADD patients carry common SCAD-encoding gene ( ACADS) variants or these variants in combination with a rare ACADS mutation, in the Netherlands predominantly the c.1058C>T. Epilepsy in childhood often remains unexplained and patients with epilepsy related to SCADD may remain undiagnosed because studies for SCADD are often not performed. To test this hypothesis and to further estimate the extent of the Dutch SCADD population, we performed a study on blood spot samples in 131 paediatric patients with epilepsy and 909 anonymous newborns and investigated the presence of the 2 common ACADS variants and the rare c.1058C>T mutation. Overall, the 2 common ACADS variants and the rare c.1058C>T mutation were detected in either homozygous or compound heterozygous forms in 9.2% of the epilepsy and 7.5% of the reference group. A birth prevalence of SCADD with a mutation/variant genotype in the Netherlands as high as >1:1,000 was calculated. This is in contrast with the low number of patients diagnosed clinically and supports the hypothesis that SCADD is clinically irrelevant. Furthermore our study does not support an association between SCADD and epilepsy.
短链酰基辅酶A脱氢酶缺乏症（SCADD）是一种常染色体隐性遗传的先天性代谢缺陷病，最常与发育迟缓及/或癫痫相关。大多数SCADD患者携带常见的SCAD编码基因（ACADS）变异，或这些变异与罕见的ACADS突变相结合，在荷兰主要是c.1058C>T。儿童期癫痫常常原因不明，与SCADD相关的癫痫患者可能仍未得到诊断，因为针对SCADD的研究往往未开展。为验证这一假设并进一步评估荷兰SCADD人群的规模，我们对131例癫痫儿科患者和909例匿名新生儿的血斑样本进行了研究，调查了两种常见ACADS变异和罕见的c.1058C>T突变的存在情况。总体而言，在9.2%的癫痫患者组和7.5%的参照组中检测到两种常见ACADS变异和罕见的c.1058C>T突变以纯合或复合杂合形式存在。计算得出荷兰SCADD突变/变异基因型的出生患病率高达>1:1000。这与临床诊断的患者数量较少形成对比，支持了SCADD在临床上无关联的假设。此外，我们的研究不支持SCADD与癫痫之间存在关联。
