All issues > Volume 45(1); 2002

Case Report

J Korean Pediatr Soc. 2002;45(1):120-124. Published online January 15, 2002.

A Case of Hereditary Fructose Intolerance

Eun Kyeong EK Kang¹, Hye Ran HR Yang¹, Jeong Kee JK Seo¹, Sun Hoan SH Bai¹, Joo Young JY Jeong¹, Jae Sung JS Ko¹, Il Soo IS Ha¹, Jeong Han JH Song², Kyeong Ae KA Wi³, Yoon Sook YS Shin⁴

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
¹Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
²Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea
³Department of Food Service and Nutrition Care, College of Medicine, Seoul National University, Seoul, Korea
⁴Metabolic Unit, Children`s Hospital, University of Munich, Germany

Correspondence Jeong Kee JK Seo ,Email: jkseo@plaza.snu.ac.kr

Abstract

Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms after taking foods containing fructose. Chronic exposure to fructose may lead to progressive hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein, we report a case of HFI with presentation of episodic vomiting, diarrhea, cold sweating, abnormal liver function and failure to thrive after 12 months of her age. She developed an aversion to fruits and sweet-tasting foods. When she was admitted to hospital at the age of 30 months, hepatomegaly, and dysfunction of proximal renal tubule with renal tubular acidosis were noted. We confirmed the diagnosis via enzyme assay on biopsied liver and intestine. A fructose restrictied diet was recommended. The patient has been symptom free with normal liver functions since then.

Keywords :Hereditary fructose intolerance, Aldolase B, Fructose-1-phosphate