Roshni Vara, Anil Dhawan, Maesha Deheragoda, Stephanie Grünewald, Germaine Pierre, Nigel D Heaton, Hector Vilca-Melendez, Nedim Hadžić
Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, seizures, and if untreated can be fatal. Despite advances in medical therapy, neurocognitive outcomes remain suboptimal. LT has emerged as a potential management option. A retrospective single-center review identified 7 children with a median age of 1.1 years (range, 0.6-5.8) at referral. Five children presented clinically, and 2 were treated prospectively from birth due to positive family history...
June 2018: Pediatric Transplantation