Summary
Citrin deficiency is a common congenital metabolic defect not only in East Asian populations but also in other populations around the world. It has been shown that although liver transplantation is ultimately required in many patients to prevent neurological decompensation associated with hyperammonaemia, arginine is effective in lowering ammonia in hyperammonaemic patients, and a high-protein low-carbohydrate diet may provide some benefit to infants in improving failure to thrive. In the present study, the clinical symptoms and laboratory findings are reported for a 13-year-old citrin-deficient girl in the early stage of adult-onset type II citrullinaemia (CTLN2), and the therapeutic effect of orally administered arginine and sodium pyruvate was investigated. The patient complained of anorexia, lethargy, fatigue and poor growth, and showed laboratory findings typical of CTLN2; elevated levels of plasma citrulline, threonine-to-serine ratio, and serum pancreatic secretory trypsin inhibitor. Oral administration of arginine and sodium pyruvate for over 3 years improved her clinical symptoms and has almost completely normalized her laboratory findings. It is suggested that the administration of arginine and sodium pyruvate with low-carbohydrate meals may be an effective therapy in patients with citrin deficiency in order either to prolong metabolic normalcy or to provide a safer and more affordable alternative to liver transplantation.
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Abbreviations
- CTLN2:
-
adult-onset type II citrullinaemia
- Na-Pyr:
-
sodium pyruvate
- NICCD:
-
neonatal intrahepatic cholestasis caused by citrin deficiency
- PSTI:
-
pancreatic secretory trypsin inhibitor
References
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Acknowledgements
We thank Dr David S. Sinasac, Alberta Children’s Hospital, Calgary, Alberta, Canada and Dr David Dimmock, Baylor College of Medicine, Houston, Texas, USA for useful advice on editing, Daniel Mrozek for reviewing this article, and Ajinomoto Co., Inc., for supplying Na-Pyr. This study was supported in part by Grant-in-Aids for Scientific Research and for Asia-Africa Scientific Platform Program from the Japan Society for the Promotion of Science, a Grant for Child Health and Development from the Ministry of Health, Labor and Welfare of Japan, and a Grant for Research for Promoting Technological Seeds.
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Communicating editor: Ertan Mayatepek
Competing interests: None declared
References to electronic databases: Citrullinaemia, type II, adult-onset (CTLN2): OMIM 603471. Citrullinaemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD): OMIM 605814.
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Mutoh, K., Kurokawa, K., Kobayashi, K. et al. Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. J Inherit Metab Dis 31 (Suppl 2), 343–347 (2008). https://doi.org/10.1007/s10545-008-0914-x
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DOI: https://doi.org/10.1007/s10545-008-0914-x