Estimation of hereditary fructose intolerance prevalence in the Chinese population.

ABSTRACT:

Background

Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies.

Materials and methods

By searching a local cohort (Chinese Children's Rare Disease Genetic Testing Clinical Collaboration System, CCGT) and public databases (ClinVar and Human Gene Mutation Database) and reviewing HFI-related literature, we manually curated ALDOB pathogenic or likely pathogenic (P/LP) variants according to ACMG guidelines. Allele frequency (AF) information from the local database CCGT and the public databases HuaBiao and gnomAD for ALDOB P/LP variants was used to estimate and the HFI preva

SUBMITTER: Tang M 

PROVIDER: S-EPMC9419342 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature