Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I

Martijn J. de Groot, Marcel Cuppen, Marc Eling, Frans W. Verheijen, Edmond H. H. M. Rings, Dirk-Jan Reijngoud, Maaike M. C. de Vries, Francjan J. van Spronsen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)


Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation. We report two patients who presented with acute liver failure and were referred to our center for liver transplantation work-up. Urgent metabolic investigations revealed citrullinemia type I. Treatment for citrullinemia type I avoided the need for liver transplantation. Acute liver failure as a presentation of citrullinemia type I has not previously been reported in young children. Although acute liver failure has occasionally been described in other urea cycle disorders, these disorders may be underestimated as a cause. Timely diagnosis and treatment of these disorders may avoid liver transplantation and improve clinical outcome. Therefore, urea cycle disorders should be included in the differential diagnosis in young children presenting with acute liver failure.

Original languageEnglish
Pages (from-to)S413-S416
Number of pages4
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - Dec-2010

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