536 EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE OF MITOCHONDRIAL CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY
نویسندگان
چکیده
منابع مشابه
Successful treatment of severe carbamyl phosphate synthetase I deficiency.
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.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00541