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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
Statement of
J. M. Fletcher, R. Couper, D. Moore, R. Coxon and S. Dorney
Abstract: Background: Arginosuccinic acid synthetase (ASA) (EC 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.
RMID: 0030005522
DOI: 10.1023/A:1005561509704
Appears in Collections:Paediatrics publications

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