Abstract
Hereditary fructose intolerance (HFI) is a metabolic disorder caused by enzymic
deficiency of aldolase B, a genetically distinct cytosolic isoenzyme expressed
exclusively in liver, kidney, and intestine. The molecular basis of this enzyme
defect has been investigated in three affected individuals from a
nonconsanguineous kindred, in whom fructose-l-phosphate aldolase activities in
liver or intestinal biopsy samples were reduced to 2-6% of mean control values.
Authors
Timothy M. Cox, Martin W. O'Donnell, Michael Camilleri, Arthur H. Burghes
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