Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec;42(12):1548-1566.
doi: 10.1002/humu.24282. Epub 2021 Sep 24.

Epidemiological aspects of hereditary fructose intolerance: A database study

Franciele C Pinheiro  1   2   3 , Fernanda Sperb-Ludwig  1   2 , Ida V D Schwartz  1   2   4   5
Affiliations

Epidemiological aspects of hereditary fructose intolerance: A database study

Franciele C Pinheiro et al. Hum Mutat. 2021 Dec.

Abstract

Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to aldolase B deficiency in the liver, kidneys, and intestine. Patients manifest symptoms, such as ketotic hypoglycemia, vomiting, nausea, in addition to hepatomegaly and other liver and kidney dysfunctions. The treatment consists of a fructose-restricted diet, which results in a good prognosis. To analyze the distribution of ALDOB variants described in patients and to estimate the prevalence of HFI based on carrier frequency in the gnomAD database, a systematic review was conducted to assess ALDOB gene variants among patients with HFI. The prevalence of HFI was estimated from the carrier frequency of variants described in patients, as well as rare variants predicted as pathogenic by in silico tools. The p.(Ala150Pro) and p.(Ala175Asp) variants are the most frequent and are distributed worldwide. However, these variants have particular distribution patterns in Europe. The analysis of the prevalence of HFI showed that the inclusion of rare alleles predicted as pathogenic is a more informative approach for populations with few patients. The data show that HFI has a wide distribution and an estimated prevalence of ~1:10,000.

Keywords: ALDOB; HFI; inborn error of fructose metabolism; p.(Ala150Pro); p.(Ala175Asp); prevalence estimate.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

REFERENCES

    1. Adamowicz, M., Płoski, R., Rokicki, D., Morava, E., Gizewska, M., Mierzewska, H., Pollak, A., Lefeber, D. J., Wevers, R. A., & Pronicka, E. (2007). Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls. Journal of Inherited Metabolic Disease, 30(3), 407. https://doi.org/10.1007/s10545-007-0569-z
    1. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7(4), 248-249. https://doi.org/10.1038/nmeth0410-248
    1. Aldámiz-Echevarría, L., De las Heras, J., Couce, M. L., Alcalde, C., Vitoria, I., Bueno, M., Blasco-Alonso, J., Concepción García, M., Ruiz, M., Suárez, R., Andrade, F., & Villate, O. (2020). Non-alcoholic fatty liver in hereditary fructose intolerance. Clinical Nutrition, 39(2), 455-459. https://doi.org/10.1016/j.clnu.2019.02.019
    1. Ali, M, & Cox, T. M. (1995). Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. American Journal of Human Genetics, 56(4), 1002-1005. http://www.ncbi.nlm.nih.gov/pubmed/1801191
    1. Ali, M., James, C. L., & Cox, M. (1996). A newly identified adolase B splicing mutation (G-->C, 5’ intron 5) in hereditary fructose intolerance from New Zealand. Human Mutation, 7(2), 155-157. https://doi.org/10.1002/(SICI)1098-1004(1996)7:2%3C155::AID-HUMU11%3E3.0...

Publication types

Substances

LinkOut - more resources