Hong Kong Med J 2002;8:207-10 | Number 3, June 2002
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect
WKY Chan, WM But, CW Law
Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong
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/m2 , which is superior to that achieved by peritoneal dialysis and arteriovenous haemofiltration in this age-group.
Key words: Carbamoyl-phosphate synthase I deficiency disease; Hemofiltration; Infant
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