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谢菲尔德消息:谢菲尔德儿童医院的医生偶然发现一些婴儿猝死综合征(SIDS)的婴儿,遗传性缺乏一种酶——中链酰基辅酶A脱氢酶(MCAD)。由于缺乏此酶,婴儿不能照常转化脂肪酸,结果只得依赖葡萄糖作为能源。当婴儿的血糖含量降低到临界值以下时,大脑功能受到致命影响。脂毒性可能也是起作用的因素。他们检查了200个以前死亡婴儿的肝标本并开始在所有新病例中寻找此情况。他们发现多达7.5％的婴儿缺乏这种酶。此项研究的领导者Mike Bennett说,此病是遗传性的,父母是无症状的携带者。“似乎携带者比率在西方人群中很高,但还不能肯定其原因是什么”。
Sheffield News: Sheffield Children’s Hospital doctors accidentally found some infants who died of SIDS, an inherited deficiency of the enzyme, the mid-chain acyl-CoA dehydrogenase (MCAD). Due to the lack of this enzyme, babies can not convert fatty acids as usual, and as a result, they rely on glucose as their energy source. When the baby’s blood sugar levels fall below the cutoff, the brain’s functioning is fatally affected. Lipotoxicity may also be a contributing factor. They examined liver samples from 200 previously dead infants and began looking for this in all new cases. They found that up to 7.5% of infants lacked this enzyme. Mike Bennett, the study’s leader, said the disease is hereditary and parents are asymptomatic carriers. “It seems that the carrier ratio is high among Western populations, but it’s not yet certain what the reasons are.”