%0 Case Reports
%T Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.
%A Beyzaei Z
%A Ezgu F
%A Imanieh MH
%A Haghighat M
%A Dehghani SM
%A Honar N
%A Geramizadeh B
%J J Pediatr Endocrinol Metab
%V 36
%N 3
%D Mar 2023 28
%M 36659819
%F 1.52
%R 10.1515/jpem-2022-0566
%X <B>OBJECTIVE: </B>Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.<BR><B>METHODS: </B>Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene.<BR><B>CONCLUSIONS: </B>This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.