Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
, 32 (1), 122-6

Clinical and Genetic Analysis for a Chinese Family With Hereditary Fructose Intolerance

Affiliations
Case Reports

Clinical and Genetic Analysis for a Chinese Family With Hereditary Fructose Intolerance

Zhen-Ni Chi et al. Endocrine.

Abstract

Hereditary fructose intolerance (HFI) is an inheritable disorder of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B, which is critical for gluconeogenesis and fructose metabolism. The affected individuals develop severe hypoglycemia after taking foods containing fructose and cognate sugars. The exons 2-9 of the aldolase B (gene symbol ALDOB) gene from one Chinese HFI patient were amplified by the polymerase chain reaction (PCR), and direct sequence determination was applied to the amplified fragments. The mutation of a 4-bp (AACA) deletion (479_482 del) in exon 4 of ALDOB gene was identified in the patient, which had been reported to cause a frameshift at codon 118 and a truncated protein of 132 amino acids in the previous study. Then, the second case with the same homozygote deletion and eight cases with heterozygotes had been found through screening for the mutation c.479_482 del AACA in the whole family. This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.

Similar articles

See all similar articles

Cited by 2 PubMed Central articles

References

    1. Genomics. 1996 Dec 1;38(2):199-205 - PubMed
    1. Am J Hum Genet. 1990 Jun;46(6):1194-9 - PubMed
    1. Hum Mutat. 2005 Jun;25(6):594 - PubMed
    1. J Mol Biol. 2005 Mar 18;347(1):135-44 - PubMed
    1. Mol Genet Metab. 2005 Jul;85(3):165-7 - PubMed

Publication types

Substances

LinkOut - more resources

Feedback