Successful treatment of severe carbamyl phosphate synthetase I deficiency.
نویسندگان
چکیده
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.
منابع مشابه
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عنوان ژورنال:
- Archives of disease in childhood
دوره 59 12 شماره
صفحات -
تاریخ انتشار 1984