caa a22 4500 469045353 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799641 doi (NATIONALLICENCE)springer-10.1007/BF01799641 Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency [Elektronische Daten] [M. Tuchman, S. Mauer, R. Holzknecht, M. Summar, C. Vnencak-Jones] 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. SSIEM and Kluwer Academic Publishers, 1992 Tuchman M. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut Mauer S. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut Holzknecht R. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut Summar M. Division of Genetics, Departments of Pediatrics and Pathology, Vanderbilt University Medical Center, Nashville, Tennessee, USA aut Vnencak-Jones C. Division of Genetics, Departments of Pediatrics and Pathology, Vanderbilt University Medical Center, Nashville, Tennessee, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 269-277 0141-8955 15:2<269 1992 15 10545 https://doi.org/10.1007/BF01799641 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799641 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tuchman M. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut NATIONALLICENCE 700 1- Mauer S. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut NATIONALLICENCE 700 1- Holzknecht R. Divisions of Genetics and Metabolism and Nephrology, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA aut NATIONALLICENCE 700 1- Summar M. Division of Genetics, Departments of Pediatrics and Pathology, Vanderbilt University Medical Center, Nashville, Tennessee, USA aut NATIONALLICENCE 700 1- Vnencak-Jones C. Division of Genetics, Departments of Pediatrics and Pathology, Vanderbilt University Medical Center, Nashville, Tennessee, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 269-277 0141-8955 15:2<269 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer