Falk R E, Cederbaum S D, Blass J P, Gibson G E, Kark R A, Carrel R E
Pediatrics. 1976 Nov;58(5):713-21.
Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in fats to cause ketonemia but not acidosis, there was a fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one. The possibility of dietary treatment makes the early diagnosis of PDH deficiency more important. Determination of blood pyruvate and lactate levels following a standard glucose meal (glucose-pyruvate test) appears to be the most reliable screening test for this condition.
两名兄弟，分别为11岁6个月和2岁3个月，患有精神运动和生长发育迟缓、虚弱发作、共济失调、眼肌麻痹以及血丙酮酸水平升高，结果显示他们缺乏丙酮酸脱氢酶复合体（PDH）。当他们摄入足够高脂肪的饮食以导致酮血症但不引起酸中毒时，血丙酮酸水平下降，神经功能恶化发作的频率和严重程度降低，弟弟的生长发育速度加快，哥哥的力量和耐力增强。饮食治疗的可能性使得早期诊断PDH缺乏更为重要。标准葡萄糖餐后测定血丙酮酸和乳酸水平（葡萄糖-丙酮酸试验）似乎是针对这种情况最可靠的筛查试验。
