Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
- 1 March 1978
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 53 (3) , 230-234
- https://doi.org/10.1136/adc.53.3.230
Abstract
Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels rose to 570 mumol/u (795 microgram/100 ml) a few hours before death, which occurred on the third and fourth day of life respectively. Assay of liver urea cycle enzymes in baby B showed a complete absence of mitochondrial carbamyl phosphate synthetase activity.This publication has 21 references indexed in Scilit:
- Urea-Cycle Enzyme Deficiencies and an Increased Nitrogen Load Producing Hyperammonemia in Reye's SyndromeNew England Journal of Medicine, 1976
- Increased excretion of N-carbamoyl compounds in patients with urea cycle defectsClinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemiaThe Journal of Pediatrics, 1976
- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I ActivityPediatric Research, 1975
- Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1974
- A Case of Carbamyl Phosphate Synthetase DeficiencyThe Tohoku Journal of Experimental Medicine, 1972
- Hereditary Metabolic Disorders of the Urea CyclePublished by Elsevier ,1971
- Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.Archives of Disease in Childhood, 1969
- Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.Archives of Disease in Childhood, 1969
- Effects of pH on the kinetics of human liver ornithine-carbamyl phosphate transferaseBiochemistry, 1968