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婴儿猝死综合征(SIDS)与β-氧化脂肪酸遗传性疾病有关。其中最明显的可能是中链-酰基-辅酶A(COA)脱氢酶缺乏。作者对一婴儿猝死的和出生后第3天意外死亡的一个家族进行了调查。婴儿,女,是第一个健康儿童,双亲无血缘关系,无何疾病体征,出生后第3天出现了昏迷、死亡。未做尸检,但做了血液代谢方面的检查。结果发现低血糖(0.1mmol/L),无酮血症(3-羟丁酸盐0.47mmol/L),血浆含C_6-C_(10)二羧酸与3-羟基二羧酸和中等浓度的中链与长链3-羟基脂肪酸。第2个小儿完全健康,但第3个小儿在出生5个
Sudden infant death syndrome (SIDS) and β-oxidized fatty acid genetic disease. The most obvious of these may be the absence of medium-chain-acyl-CoA dehydrogenase. The authors investigated a sudden death in a baby and a family that died unexpectedly on the third day after birth. Baby, female, is the first healthy child, no blood relationship between parents, no signs of disease, coma and death on the 3rd day after birth. No autopsy, but blood tests done. The results showed that hypoglycemia (0.1mmol / L), no ketosis (3- hydroxybutyrate 0.47mmol / L), plasma containing C 6-C 10 dicarboxylic acid and 3-hydroxy dicarboxylic acid and moderate concentrations of Medium chain and long chain 3-hydroxy fatty acids. The second child is perfectly healthy, but the third child is born five