Bougnères P F, Saudubray J M, Marsac C, Bernard O, Odièvre M, Girard J
J Pediatr. 1981 May;98(5):742-6. doi: 10.1016/s0022-3476(81)80834-7.
Two sisters developed severe hypoglycemia at 8 months of age, resulting in death in one of them. Metabolic studies of the second revealed decline of blood glucose concentration and low plasma ketone body values during a 20-hour fast, both reversed by administration of medium-chain triglycerides. Carnitine palmitoyl transferase activity was absent in the liver extract of the patient; lack of this enzyme impairs long-chain fatty acid oxidation and ketogenesis. Failure of gluconeogenesis could result from decreased production of acetyl-CoA and NADH.
两姐妹在8个月大时出现严重低血糖，其中一人死亡。对另一人的代谢研究显示，在禁食20小时期间血糖浓度下降且血浆酮体值较低，给予中链甘油三酯后两者均得到逆转。患者肝脏提取物中缺乏肉碱棕榈酰转移酶活性；这种酶的缺乏会损害长链脂肪酸氧化和生酮作用。糖异生失败可能是由于乙酰辅酶A和NADH生成减少所致。
