Hereditary fructose intolerance

Definition:

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).

References:

[1]. Derek Wong, et al. Hereditary fructose intolerance. Mol Genet Metab. 2005 Jul;85(3):165-7. [Content Brief]

[2]. M Ali, et al. Hereditary fructose intolerance. J Med Genet. 1998 May;35(5):353-65. [Content Brief]

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