Lundemose J B, Gregersen N, Kølvraa S, Nørgaard Pedersen B, Gregersen M, Helweg-Larsen K, Simonsen J
Institute of Forensic Medicine, University of Aarhus, Denmark.
Acta Paediatr. 1993 Jun-Jul;82(6-7):544-6. doi: 10.1111/j.1651-2227.1993.tb12749.x.
A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical presentations of inherited metabolic disorders and examine a wider range of sudden death in infancy.
已知多种罕见的遗传性代谢紊乱会导致婴儿期死亡。基于临床原因，中链酰基辅酶A脱氢酶缺乏症尤其与婴儿猝死综合征相关。这种疾病对婴儿猝死综合征病因的贡献仍存在争议。本研究调查了120例明确诊断的婴儿猝死综合征病例，以检测编码中链酰基辅酶A脱氢酶（G985）的基因中最常见致病点突变的频率，并与普通人群的频率进行比较。在干血斑上应用了高度特异性的聚合酶链反应检测法。在这样一个严格定义的人群中，似乎不存在G985纯合或杂合的过度表现，因此，观察遗传性代谢紊乱更广泛的临床表现谱并检查更广泛的婴儿期猝死可能更有意义。
