Journal of the Korean Pediatric Society 2002;45(1):120-124.
Published online January 15, 2002.
A Case of Hereditary Fructose Intolerance
Eun Kyeong Kang1, Hye Ran Yang1, Jeong Kee Seo1, Sun Hoan Bai1, Joo Young Jeong1, Jae Sung Ko1, Il Soo Ha1, Jeong Han Song2, Kyeong Ae Wi3, Yoon Sook 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
유전성 과당 불내증 1례
강은경1, 양혜란1, 서정기1, 배선환1, 정주영1, 고재성1, 하일수1, 송정한2, 위경애3, 신윤숙4
1서울대학교 의과대학 소아과학교실
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 임상병리학교실
3서울대학교 의과대학 급식 영양과
4독일 뮌헨대학교 소아병원
Correspondence: 
Jeong Kee 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.
Key Words: Hereditary fructose intolerance, Aldolase B, Fructose-1-phosphate


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