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The biochemical basis of hereditary fructose intolerance
- Source :
- Journal of Inherited Metabolic Disease. 33:105-112
- Publication Year :
- 2010
- Publisher :
- Wiley, 2010.
-
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.
- Subjects :
- Genetics
Mutation
Hereditary fructose intolerance
Point mutation
Aldolase B
Aldolase A
Fructose Intolerance
Fructose
Biology
medicine.disease
medicine.disease_cause
Fructokinase
chemistry.chemical_compound
Biochemistry
chemistry
Fructose-Bisphosphate Aldolase
medicine
biology.protein
Humans
Point Mutation
Genetics (clinical)
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....3f5176338ef0467d49c58f000fef0988
- Full Text :
- https://doi.org/10.1007/s10545-010-9053-2