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https://hdl.handle.net/2440/7513
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Type: | Journal article |
Title: | Liver transplantation for citrullinaemia improves intellectual function |
Author: | Fletcher, J. Couper, R. Moore, D. Coxon, R. Dorney, S. |
Citation: | Journal of Inherited Metabolic Disease, 1999; 22(5):581-586 |
Publisher: | Kluwer Academic Publishers |
Issue Date: | 1999 |
ISSN: | 0141-8955 1573-2665 |
Statement of Responsibility: | J. M. Fletcher, R. Couper, D. Moore, R. Coxon and S. Dorney |
Abstract: | Background: Arginosuccinic acid synthetase (ASA) (EC 6.3.4.5) 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. |
DOI: | 10.1023/A:1005561509704 |
Published version: | http://dx.doi.org/10.1023/a:1005561509704 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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