1/3. A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.This is the first case of fulminant neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous hemodiafiltration indicating that this is an available and effective procedure for neonates with hyperammonemic coma.- - - - - - - - - - ranking = 1keywords = coma (Clic here for more details about this article) |
2/3. ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.We report the case of a newborn baby with carbamoyl phosphate synthetase deficiency. He presented at 2 weeks of life, deteriorating to a state of hyperammonaemic coma and respiratory failure. Rapid detoxification was successfully achieved by continuous venovenous haemofiltration while a definitive diagnosis and treatment were determined. The ammonia clearance achieved by continuous venovenous haemofiltration was greater than 20 mL/min/m(2), which is superior to that achieved by peritoneal dialysis and arteriovenous haemofiltration in this age-group.- - - - - - - - - - ranking = 1keywords = coma (Clic here for more details about this article) |
3/3. brain glutamine by MRS in a patient with urea cycle disorder and coma.In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema. Using magnetic resonance single voxel spectroscopy as an alternative to cerebrospinal fluid analysis, elevated brain glutamine/glutamate complex levels were detected in a patient with carbamyl phosphate synthetase deficiency, who had been comatose for many days after normalization of blood ammonia and improvement in blood glutamine levels. brain glutamine by single voxel spectroscopy decreased toward normal with neurologic recovery. We conclude that brain glutamine may be a better marker than serum ammonia for the management of urea cycle disorders, particularly in patients with prolonged mental status changes.- - - - - - - - - - ranking = 5keywords = coma (Clic here for more details about this article) |