Gazi University Hospital, Department of Pediatric Nutrition and Metabolism, Ankara, Turkey.
Forensic Sci Int. 2011 Jul 15;210(1-3):e1-3. doi: 10.1016/j.forsciint.2011.04.003. Epub 2011 Apr 30.
Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1-4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries.
极长链酰基辅酶 A 脱氢酶缺乏症（VLCADD）（OMIM#201475）是一种脂肪酸氧化的常染色体隐性遗传疾病。主要表型为低酮性低血糖、肝肿大、心肌病、肌病、横纹肌溶解症、肌酸激酶升高以及肝和肌肉的脂质浸润。同时，它也是婴儿猝死综合征（SIDS）或新生儿期不明原因死亡的罕见原因[1-4]。我们报告了一例 VLCADD 患者，其父母因涉嫌杀婴而接受调查，因为她的前三个兄弟姐妹在正常分娩后突然死亡。
