지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 126 - 128 (3page)
이용수
초록· 키워드
오류제보하기
Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes.
Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val253fsX24]+[val253fsX24]). This report is the fi rst of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
Ali M / 1998 / Hereditary fructose intolerance / J Med Genet 35 : 353 ~ 365
Burmeister LA / 1991 / Adult hereditary fructose intolerance / Arch Intern Med 151 : 773 ~ 776
Chambers RA / 1956 / Idiosyncrasy to fructose / Lancet 271 : 340 ~
Chi ZN / 2007 / Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance / Endocrine 32 : 122 ~ 126
Coffee EM / 2010 / Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population / J Inherit Metab Dis 33 : 33 ~ 42
Burmeister LA / 1991 / Adult hereditary fructose intolerance / Arch Intern Med 151 : 773 ~ 776
Chambers RA / 1956 / Idiosyncrasy to fructose / Lancet 271 : 340 ~
Chi ZN / 2007 / Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance / Endocrine 32 : 122 ~ 126
Coffee EM / 2010 / Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population / J Inherit Metab Dis 33 : 33 ~ 42
이 논문의 저자 정보
최근 본 자료
댓글(0)
0