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Journal of Inherited Metabolic Disease

Erschienen in:

01.04.2010 | Review

The biochemical basis of hereditary fructose intolerance

verfasst von: Nadia Bouteldja, David J. Timson

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2010

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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.

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Titel: The biochemical basis of hereditary fructose intolerance
verfasst von: Nadia Bouteldja
David J. Timson
Publikationsdatum: 01.04.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 2/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9053-2

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