Three inborn errors of fructose metabolism are known. Two of these concern the fructose pathway: essential fructosuria and hereditary fructose intolerance (HFI). In the third, fructose-1,6-diphosphatase deficiency, gluconeogenesis is severely impaired; this defect will be described elsewhere.
In this chapter the two inherited abnormalities of fructose metabolism are described: deficiency of fructokinase and deficiency of fructose-1-phosphate aldolase. The first one is responsible for a benign condition, essential fructosuria, that does not necessitate any dietary restrictions. The second one is responsible for a severe disease, sometimes lethal, that necessitates a fructose-free diet as soon as possible. Both conditions are inherited as autosomal recessive traits.
KeywordsPyloric Stenosis Renal Tubular Dysfunction Autosomal Recessive Trait Hereditary Fructose Intolerance Fructose Metabolism
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