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 impro...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Archives of disease in childhood 1984-12, Vol.59 (12), p.1183-1185
Hauptverfasser:	Van de Bor, M, Mooy, P, van Zoeren, D, Berger, R, van Gelderen, H H, Teijema, H L
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - diet therapy Amino Acid Metabolism, Inborn Errors - drug therapy Ammonia - blood Benzoates - therapeutic use Benzoic Acid Carbamoyl-Phosphate Synthase (Ammonia) - deficiency Dietary Proteins - administration & dosage Female Humans Infant, Newborn Ligases - deficiency Phenylacetates - therapeutic use Sodium
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0003-9888 1468-2044
DOI:	10.1136/adc.59.12.1183