Biomaterial Database

The biochemical basis of hereditary fructose intolerance. 2010

Nadia Bouteldja, and David J Timson

School of Biological Sciences, Queen's University Belfast, Medical Biology Centre, 97 Lisburn Road, Belfast BT9 7BL, UK.

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.

UI	MeSH Term	Description	Entries
D005632	Fructose	A monosaccharide in sweet fruits and honey that is soluble in water, alcohol, or ether. It is used as a preservative and an intravenous infusion in parenteral feeding.	Levulose,Apir Levulosa,Fleboplast Levulosa,Levulosa,Levulosa Baxter,Levulosa Braun,Levulosa Grifols,Levulosa Ibys,Levulosa Ife,Levulosa Mein,Levulosado Bieffe Medit,Levulosado Braun,Levulosado Vitulia,Plast Apyr Levulosa Mein,Levulosa, Apir,Levulosa, Fleboplast
D005633	Fructose Intolerance	An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.	ALDOB Deficiency,Aldolase B Deficiency,Fructose Aldolase B Deficiency,Fructose Intolerance, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiency,Fructose-1,6-Bisphosphate Aldolase B Deficiency,Fructose-1-Phosphate Aldolase Deficiency,Fructosemia,Hereditary Fructose Intolerance,ALDOB Deficiencies,Aldolase B Deficiencies,Aldolase Deficiencies, Fructose-1,6-Biphosphate,Aldolase Deficiencies, Fructose-1-Phosphate,Aldolase Deficiency, Fructose-1,6-Biphosphate,Aldolase Deficiency, Fructose-1-Phosphate,Deficiencies, ALDOB,Deficiencies, Aldolase B,Deficiencies, Fructose-1,6-Biphosphate Aldolase,Deficiencies, Fructose-1-Phosphate Aldolase,Deficiency, ALDOB,Deficiency, Aldolase B,Deficiency, Fructose-1,6-Biphosphate Aldolase,Deficiency, Fructose-1-Phosphate Aldolase,Fructose 1 Phosphate Aldolase Deficiency,Fructose 1,6 Biphosphate Aldolase Deficiency,Fructose 1,6 Bisphosphate Aldolase B Deficiency,Fructose Intolerances,Fructose Intolerances, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiencies,Fructose-1-Phosphate Aldolase Deficiencies,Fructosemias,Hereditary Fructose Intolerances,Intolerance, Fructose,Intolerances, Fructose
D005634	Fructose-Bisphosphate Aldolase	An enzyme of the lyase class that catalyzes the cleavage of fructose 1,6-biphosphate to form dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. The enzyme also acts on (3S,4R)-ketose 1-phosphates. The yeast and bacterial enzymes are zinc proteins. (Enzyme Nomenclature, 1992) E.C. 4.1.2.13.	Aldolase,Fructosediphosphate Aldolase,Aldolase A,Aldolase B,Aldolase C,Fructose 1,6-Bisphosphate Aldolase,Fructose 1,6-Bisphosphate Aldolase, Class II,Fructose 1-Phosphate Aldolase,Fructose Biphosphate Aldolase,Fructosemonophosphate Aldolase,1,6-Bisphosphate Aldolase, Fructose,Aldolase, Fructose 1,6-Bisphosphate,Aldolase, Fructose 1-Phosphate,Aldolase, Fructose Biphosphate,Aldolase, Fructose-Bisphosphate,Aldolase, Fructosediphosphate,Aldolase, Fructosemonophosphate,Fructose 1 Phosphate Aldolase,Fructose 1,6 Bisphosphate Aldolase,Fructose Bisphosphate Aldolase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017354	Point Mutation	A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.	Mutation, Point,Mutations, Point,Point Mutations