Duran M, Mitchell G, de Klerk J B, de Jager J P, Hofkamp M, Bruinvis L, Ketting D, Saudubray J M, Wadman S K
J Pediatr. 1985 Sep;107(3):397-404. doi: 10.1016/s0022-3476(85)80514-x.
Five patients aged 7 to 21 months are described who developed attacks of coma after a short prodromal illness with diarrhea or vomiting or both. Four had concomitant hypoglycemia, and all had hypoketonemia, with excessive urinary excretion of medium-chain dicarboxylic acids, medium-chain (omega-1)-hydroxyacids, suberylglycine, hexanoylglycine, and octanoylcarnitine. All patients accumulated octanoic acid, decanoic acid, and cis-4-decenoic acid in plasma. Fibroblasts from three patients showed a decreased rate of octanoate oxidation (10%, 12%, and 29% of control values, respectively). These findings suggest a deficiency of medium-chain acyl-CoA dehydrogenase, most probably an autosomal recessive inherited metabolic disorder. Two of the patients died during an acute attack, and a third had severe neurologic sequelae; the two remaining patients recovered. Plasma free carnitine levels were low, but total carnitine was normal. The three surviving patients underwent a fasting test, which did not lead to hypoglycemia, although hypoketonemia, dicarboxylic aciduria, and excessive mobilization of fatty acids did occur. The surviving patients were maintained on frequent carbohydrate-enriched meals.
本文描述了5例年龄在7至21个月的患儿，他们在经历短暂的前驱疾病（伴有腹泻或呕吐或两者皆有）后出现昏迷发作。4例伴有低血糖，所有患儿均有低酮血症，伴有中链二羧酸、中链（ω-1）-羟酸、辛二酰甘氨酸、己酰甘氨酸和辛酰肉碱的尿排泄过多。所有患儿血浆中辛酸、癸酸和顺式-4-癸烯酸均蓄积。3例患儿的成纤维细胞显示辛酸氧化速率降低（分别为对照值的10%、12%和29%）。这些发现提示中链酰基辅酶A脱氢酶缺乏，很可能是一种常染色体隐性遗传代谢紊乱。2例患儿在急性发作期间死亡，第3例有严重的神经后遗症；其余2例患儿康复。血浆游离肉碱水平较低，但总肉碱正常。3例存活患儿进行了禁食试验，尽管出现了低酮血症、二羧酸尿症和脂肪酸过度动员，但未导致低血糖。存活患儿通过频繁进食富含碳水化合物的食物来维持。
