Hereditary fructose intolerance

Stable Identifier
R-HSA-5657560
Type
Pathway
Species
Homo sapiens
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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).

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