Matsubara Y, Narisawa K, Tada K
Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Eur J Pediatr. 1992 Mar;151(3):154-9. doi: 10.1007/BF01954373.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40-107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
中链酰基辅酶A脱氢酶（MCAD）缺乏症是一种常染色体隐性疾病，已知可导致儿童患雷氏综合征和婴儿猝死。最近发现，MCAD基因中赖氨酸329突变为谷氨酸329的点突变是MCAD缺乏症患者中最常见的突变。这种突变在白种人中约占突变型MCAD等位基因的90%。具有这种突变类型的患者有多种症状，这表明MCAD缺乏症的临床异质性可能并非完全由基因异质性引起。在英国、澳大利亚和美国对新生儿进行该突变的筛查表明，携带者的患病率为1/40至1/107，提示该突变的高发生率。由于症状前诊断和适当的饮食管理对于预防MCAD缺乏症患者危及生命的并发症很重要，这种疾病相对较高的发生率可能需要进行人群筛查。现在可以通过使用格思里卡片的DNA诊断方法检测最常见的MCAD突变。这使得高效筛查人群中的这种潜在致命疾病成为可能。
