{Reference Type}: Case Reports
{Title}: Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.
{Author}: Beyzaei Z;Ezgu F;Imanieh MH;Haghighat M;Dehghani SM;Honar N;Geramizadeh B;
{Journal}: J Pediatr Endocrinol Metab
{Volume}: 36
{Issue}: 3
{Year}: Mar 2023 28
{Factor}: 1.52
{DOI}: 10.1515/jpem-2022-0566
{Abstract}: <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.