Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
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Cross NC, Tolan DR, Cox TM
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
Cell. 1988 Jun 17;53(6):881-5.
- PubMed ID
- 3383242 [ View in PubMed]
- Abstract
Hereditary fructose intolerance (HFI) is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. We report here the first identification of a molecular lesion in the aldolase B gene of an affected individual whose defective protein has previously been characterized. The mutation is a G----C transversion in exon 5 that creates a new recognition site for the restriction enzyme Ahall and results in an amino acid substitution (Ala----Pro) at position 149 of the protein within a region critical for substrate binding. Utilizing this novel restriction site and the polymerase chain reaction, the patient was shown to be homozygous for the mutation. Three other HFI patients from pedigrees unrelated to this individual were found to have the same mutation: two were homozygous and one was heterozygous. We suggest that this genetic lesion is a prevailing cause of hereditary fructose intolerance.