Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
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.
Chi
Zhen-Ni
ZN
Department of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shangai, China.
Hong
Jie
J
Yang
Jun
J
Zhang
Hui-Jie
HJ
Dai
Meng
M
Cui
Bin
B
Zhang
Yu
Y
Gu
Wei-Qiong
WQ
Zhang
Yi-Fei
YF
Liu
Qiao-Rui
QR
Wang
Wei-Qing
WQ
Li
Xiao-Ying
XY
Ning
Guang
G
D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005633:Fructose Intolerance / Q000097:blood / Q000235:genetics* / Q000652:urine; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
D005634:Fructose-Bisphosphate Aldolase