Roe C R, Wiltse H E, Sweetman L, Alvarado L L
Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX 75226, USA.
J Pediatr. 2000 Mar;136(3):397-9. doi: 10.1067/mpd.2000.103853.
An adopted 3(1/2)-year-old girl with no prior medical problems died after a routine dental procedure. More than 2 years later, acylcarnitine analysis of dried blood found on her bedding revealed she had very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. Perioperative oral fasting, without intravenous administration of glucose, may be detrimental to children with certain metabolic and endocrine disorders. Newborn screening by tandem mass spectrometry will detect disorders of fatty acid oxidation such as VLCAD and allow early and preventive treatment.
一名3岁半的领养女童此前无任何健康问题，却在一次常规牙科手术后死亡。两年多后，对在她床上发现的干血进行的酰基肉碱分析显示，她患有极长链酰基辅酶A脱氢酶（VLCAD）缺乏症。围手术期口服禁食且未静脉注射葡萄糖，可能对患有某些代谢和内分泌疾病的儿童有害。通过串联质谱法进行新生儿筛查将检测出诸如VLCAD等脂肪酸氧化紊乱疾病，并实现早期预防性治疗。
