KEGG   DISEASE: H00071Help
Entry
H00071                      Disease                                

Name
Hereditary fructose intolerance;
Fructosemia
Description
Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P (two three-carbon compounds).
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Glycolysis / Gluconeogenesis
Gene
ALDOB; aldolase B [HSA:229] [KO:K01623]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Wong D
  Title
Hereditary fructose intolerance.
  Journal
Mol Genet Metab 85:165-7 (2005)
Reference
PMID:9610797
  Authors
Ali M, Rellos P, Cox TM
  Title
Hereditary fructose intolerance.
  Journal
J Med Genet 35:353-65 (1998)
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