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Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency
Author(s) -
Tuchman M.,
Mauer S. M.,
Holzknecht R. A.,
Summar M. L.,
VnencakJones C. L.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799641
Subject(s) - carbamyl phosphate , medicine , human genetics , prospective cohort study , pediatrics , gastroenterology , endocrinology , biochemistry , biology , enzyme , gene
Summary Two female siblings were treated for acute neonatal hyperammonaemia due to complete carbamyl phosphate synthetase I deficiency. The first child was detected clinically at 65 hours of age and therapy started at 79 hours. The second child was followed from birth and therapy started at 5 hours of age. The extrapolated rate of increase of blood ammonia, in the first hours of life before therapy started, was 19 µmol L −1 h −1 in both babies. Peak blood ammonia level was 2235 µmol/L in the first (clinically detected) child and 271 µmol/L in the second (prospectively followed) child. The second child became symptomatic at 3 hours of age when blood ammonia level was as low as 90 µmol/L, whereas blood ammonia levels above 100 µmol/L caused no symptoms during recovery. The child detected clinically required haemodialysis and peritoneal dialysis to treat the hyperammonaemia. In the prospectively treated child, early therapy with intravenous sodium benzoate and sodium phenylacetate slowed the rate of increase in blood ammonia level, but this therapy did not prevent the need for peritoneal dialysis.