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The biochemical basis of hereditary fructose intolerance

Authors :
David J. Timson
Nadia Bouteldja
Source :
Journal of Inherited Metabolic Disease. 33:105-112
Publication Year :
2010
Publisher :
Wiley, 2010.

Abstract

Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and providing a stronger basis for improved treatment and diagnosis. Such studies have revealed changes in enzyme activity, stability and oligomerisation. However, linking these changes to disease phenotypes has not always been straightforward. This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene.

Details

ISSN :
15732665 and 01418955
Volume :
33
Database :
OpenAIRE
Journal :
Journal of Inherited Metabolic Disease
Accession number :
edsair.doi.dedup.....3f5176338ef0467d49c58f000fef0988
Full Text :
https://doi.org/10.1007/s10545-010-9053-2