Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Liver transplantation for citrullinaemia improves intellectual function|
|Citation:||Journal of Inherited Metabolic Disease, 1999; 22(5):581-586|
|Publisher:||Kluwer Academic Publishers|
|J. M. Fletcher, R. Couper, D. Moore, R. Coxon and S. Dorney|
|Abstract:||Background: Arginosuccinic acid synthetase (ASA) (EC 220.127.116.11) deficiency (citrullinaemia) (McKusick 215700) is a well-recognized cause of neonatal hyperammonaemic coma with poor long-term intellectual function, despite good medical management. Methods: Cadaveric hepatic transplantation was performed in a 12-year-old boy with citrullinaemia under poor biochemical control. Subsequent development of fulminant hepatic failure necessitated a second cadaveric transplant. Psychometric assessments before and after transplantation were performed using a variety of age-appropriate tests. Results: Normalization of plasma ammonium in our patient post transplantation has resulted in dramatic improvement in mental functioning and well-being and he now enjoys a normal diet. Psychometric assessment confirmed decline in his abilities prior to transplantation with particular post-transplantation improvement in perceptual organization and visuospatial abilities; these did not, however, return to normal. His family report considerable reduction in stress associated with the unpredictable nature of previous hyperammonaemic crises and recurrent hospitalization. Conclusions: Liver transplantation should be considered as an early therapeutic option in children with citrullinaemia to prevent ongoing cerebral insult associated with hyperammonaemia.|
|Keywords:||Humans; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Liver Transplantation; Intelligence; Psychometrics; Child; Quaternary Ammonium Compounds; Male|
|Rights:||© SSIEM and Kluwer Academic Publishers.|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.