Matsuo M, Ookita K, Takemine H, Koike K, Koike M
Acta Paediatr Scand. 1985 Jan;74(1):140-2. doi: 10.1111/j.1651-2227.1985.tb10937.x.
A Japanese neonate with fatal pyruvate dehydrogenase deficiency is described. The patient lapsed into a coma shortly after birth with severe metabolic acidosis caused by accumulation of lactate and pyruvate. Hyperammonemia was also present and found to be the cause of the coma. Despite intensive treatment, the patient died at 93 hours of age. Enzyme study showed that the activity of pyruvate dehydrogenase was not detected in either the liver or the kidneys. This is the third reported case of fatal pyruvate dehydrogenase deficiency and hyperammonemia is described for the first time in this condition.
本文描述了一名患有致命性丙酮酸脱氢酶缺乏症的日本新生儿。该患者出生后不久即陷入昏迷，因乳酸和丙酮酸堆积导致严重代谢性酸中毒。同时还存在高氨血症，且发现这是导致昏迷的原因。尽管进行了强化治疗，患者仍在93小时龄时死亡。酶学研究表明，肝脏和肾脏中均未检测到丙酮酸脱氢酶的活性。这是第三例报告的致命性丙酮酸脱氢酶缺乏症病例，且首次描述了这种情况下的高氨血症。
