Korean J Pediatr Gastroenterol Nutr.  2009 Mar;12(1):79-83.

A Case of Lipoprotein Lipase Deficiency inan Infant with Recurrent Pancreatitis

Affiliations
  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr

Abstract

Familial chylomicronemia syndrome is a rare disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Causes of the syndrome include lipoprotein lipase (LPL) deficiency, apolipoprotein C-II deficiency, or the presence of inhibitors to LPL. We managed a 3-month-old girl who had recurrent acute pancreatitis caused by chylomicronemia. We report the first case of familial chylomicronemia in Korea caused by LPL deficiency in an infant with recurrent acute pancreatitis.

Keyword

Chylomicronemia; Lipid; Lipoprotein lipase; Pancreatitis; Infant; Hypertriglyceridemia
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