Papanastasiou D, Lehnert W, Schuchmann L, Hommes F A
Helv Paediatr Acta. 1980 Jul;35(3):253-60.
A baby with congenital lactic acidosis is described. The blood levels of lactic acid and alanine as well as the excretion of these compounds in the urine were largely elevated. Clinically the illness presented with vomiting, poor feeding, areflexia, muscular hypotonia and hepatomegaly. The baby died at the age of three months. The pyruvate dehydrogenase complex in cultured fibroblasts showed an activity of 14% of normal values.
本文描述了一名患有先天性乳酸性酸中毒的婴儿。其血液中乳酸和丙氨酸水平以及这些化合物在尿液中的排泄量均大幅升高。临床上，该疾病表现为呕吐、喂养困难、无反射、肌张力减退和肝肿大。婴儿在三个月大时死亡。培养的成纤维细胞中的丙酮酸脱氢酶复合体活性显示为正常值的14%。
