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A possible case of transient hereditary fructose intolerance
Author(s) -
CattoSmith A. G.,
Adams A.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711318
Subject(s) - aldolase b , aldolase a , fructose , medicine , fructose bisphosphate aldolase , liver biopsy , endocrinology , biochemistry , gastroenterology , chemistry , biopsy , enzyme
Summary A patient is described who presented with the signs and symptoms of hereditary fructose intolerance a few hours after her first fructose challenge. The diagnosis was confirmed by the demonstration of reduced activity of hepatic aldolase B towards fructose‐1‐phosphate. A second liver biopsy 10 months later had normal aldolase B activity towards fructose‐1‐phosphate and a fructose tolerance test was also normal. A possible explanation for these findings is proposed.