Van de Bor M, Mooy P, van Zoeren D, Berger R, van Gelderen H H, Teijema H L
Arch Dis Child. 1984 Dec;59(12):1183-5. doi: 10.1136/adc.59.12.1183.
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
我们描述了一名因氨甲酰磷酸合成酶I缺乏导致新生儿高氨血症的女孩。治疗从出生第二天开始采用蛋白质限制措施。出生后给予苯甲酸钠三周，7个月大时再次给予苯甲酸钠并联合苯乙酸钠以提高蛋白质耐受性。15个月大时生长发育正常。
