Reactome | Hereditary fructose intolerance

Hereditary fructose intolerance

Stable Identifier

R-HSA-5657560

DOI

10.3180/r-hsa-5657560.1

Type

Pathway

Species

Homo sapiens

ReviewStatus

5/5

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Deficiencies in aldolase B arising from mutations in the aldolase B gene (ALDOB) prevent the cleavage of fructose 1-phosphate to glyceraldehyde (GA) and dihydroxyacetone phosphate (DHAP), leading to hereditary fructose intolerance (HFI). This autosomal recessive disorder is potentially fatal, but can be managed by exclusion of fructose from the diet (Cox et al. 1988; Tolan 1995).

Literature References

PubMed ID	Title	Journal	Year
8535439	Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene Tolan, DR	Hum Mutat	1995
3383242	Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation Cross, NC, Cox, TM, Tolan, DR	Cell	1988

Participants

Events

Defective ALDOB does not cleave Fru 1-P to GA and DHAP (Homo sapiens)

Participates

as an event of

Diseases of carbohydrate metabolism (Homo sapiens)

Disease

Name	Identifier	Synonyms
hereditary fructose intolerance syndrome	DOID:9869	Fructosemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosaemia

Authored

D'Eustachio, P (2015-01-29)

Reviewed

Tolan, DR (2015-02-17)

Timson, DJ (2015-02-17)

Jassal, B (2015-01-29)

Created

D'Eustachio, P (2014-12-13)

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