Plöchl E, Hilbe W, Bachmann C
Padiatr Padol. 1981;16(2):179-88.
This is a report of a family with hyperammonemia in the newborn, very probably due to ornithine transcarbamylase deficiency. Typically the male infant died in the newborn period within 74 hours. In the female newborn it was possible to provide a normal development with protein restricted diet. In mother's line there are unexplained death's of infants. The examination of amino acids and organic acids excluded other disturbances. The determination of orotic acid in the urines and oral loading with protein indicated to OTC-deficiency. The RDS-symptomatic and pulmonary bleeding in the newborns with hyperammonemia is emphasized.
这是一份关于一个患有新生儿高氨血症家庭的报告，很可能是由于鸟氨酸转氨甲酰酶缺乏所致。典型的情况是，男婴在新生儿期74小时内死亡。对于女婴，通过限制蛋白质饮食可以实现正常发育。在母系家族中有不明原因的婴儿死亡情况。对氨基酸和有机酸的检测排除了其他紊乱情况。尿液中乳清酸的测定以及蛋白质口服负荷试验表明存在鸟氨酸转氨甲酰酶缺乏。文中强调了高氨血症新生儿的呼吸窘迫综合征症状和肺出血情况。
