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Article

Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2023

Beyzaei Zahra, Ezgu Fatih, Imanieh Mohammad Hadi, Haghighat Mahmoud, Dehghani Seyed Mohsen, Honar Naser, Geramizadeh Bita

Abstract excerpt

OBJECTIVES: 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. CASE PRESENTATION: 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...

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Identifiers

PMID: 36659819
DOI: 10.1515/jpem-2022-0566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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