Review

Journal of Inherited Metabolic Disease

, Volume 33, Issue 2, pp 105-112

The biochemical basis of hereditary fructose intolerance

  • Nadia BouteldjaAffiliated withSchool of Biological Sciences, Queen’s University Belfast, Medical Biology Centre
  • , David J. TimsonAffiliated withSchool of Biological Sciences, Queen’s University Belfast, Medical Biology Centre Email author 

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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.