Journal of Inherited Metabolic Disease

, Volume 33, Issue 2, pp 105–112

The biochemical basis of hereditary fructose intolerance

Authors

  • Nadia Bouteldja
    • School of Biological SciencesQueen’s University Belfast, Medical Biology Centre
    • School of Biological SciencesQueen’s University Belfast, Medical Biology Centre
Review

DOI: 10.1007/s10545-010-9053-2

Cite this article as:
Bouteldja, N. & Timson, D.J. J Inherit Metab Dis (2010) 33: 105. doi:10.1007/s10545-010-9053-2

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.

Abbreviations

ATP

Adenosine triphosphate

AP-aldolase

Ala149Pro variant of aldolase B

ARMS

Amplification refractory mutation system

DHAP

Dihydroxyacetone phosphate

GKRP

Glucokinase regulatory protein

HFI

Hereditary fructose intolerance

F 1-P

Fructose 1-phosphate

OMIM

Online Mendelian Inheritance in Man

PDB

Protein Data Bank

RFLP

Restriction fragment-length polymorphism

Copyright information

© SSIEM and Springer 2010