Ornithine transcarbamylase deficiency and pancreatitis☆
Received 22 November 1999; received in revised form 14 March 2000 and 22 June 2000; accepted 27 June 2000.
Abstract
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate. (J Pediatr 2001;138:123-4)
Divisions of Endocrinology/Diabetes and Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children’s Hospital of Philadelphia
☆ Reprint request: Gerard T. Berry, MD, Professor of Pediatrics, University of Pennsylvania School of Medicine, Division of Endocrinology/Diabetes, The Children’s Hospital of Philadelphia, 34th St & Civic Center Blvd, Philadelphia, PA 19104.