Journal of Inherited Metabolic Disease

, Volume 33, Issue 2, pp 105–112 | Cite as

The biochemical basis of hereditary fructose intolerance

  • Nadia Bouteldja
  • David J. Timson


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.


Fructose Aldolase Glycogen Phosphorylase Dietary Fructose Fructokinase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Adenosine triphosphate


Ala149Pro variant of aldolase B


Amplification refractory mutation system


Dihydroxyacetone phosphate


Glucokinase regulatory protein


Hereditary fructose intolerance

F 1-P

Fructose 1-phosphate


Online Mendelian Inheritance in Man


Protein Data Bank


Restriction fragment-length polymorphism



We thank the anonymous referees for many valuable suggestions. NB gratefully acknowledges the support of the Arthritis Research Campaign (UK).


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Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  1. 1.School of Biological SciencesQueen’s University Belfast, Medical Biology CentreBelfastUK

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