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Usage Information

Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens
Timothy M. Cox, Martin W. O'Donnell, Michael Camilleri, Arthur H. Burghes
Timothy M. Cox, Martin W. O'Donnell, Michael Camilleri, Arthur H. Burghes
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Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens

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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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Usage data is cumulative from March 2025 through March 2026.

Usage JCI PMC
Text version 240 18
PDF 93 16
Figure 0 1
Scanned page 511 4
Citation downloads 79 0
Totals 923 39
Total Views 962
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