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Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
Y Tazawa1, K Kobayashi, T Ohura
1Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
The Journal of Pediatrics
|May 9, 2001
Abstract:
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.