ArticleJournal of inherited metabolic disease2010
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review.Case reports in medicine · 2026Article
- Food-Intolerance Genetic Testing: A Useful Tool for the Dietary Management of Chronic Gastrointestinal Disorders.Nutrients · 2024Article
- Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance.Communications biology · 2024Article
- A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.Journal of clinical medicine · 2024Article
- Descriptive Analysis of Carrier and Affected Hereditary Fructose Intolerance in Women during Pregnancy.Healthcare (Basel, Switzerland) · 2024Article
- Comparative Proteomic Analysis of Liver Tissues and Serum inInternational journal of molecular sciences · 2022Article
- Estimation of hereditary fructose intolerance prevalence in the Chinese population.Orphanet journal of rare diseases · 2022Review
- Hereditary fructose intolerance: A comprehensive review.World journal of clinical pediatrics · 2022Review
- Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Hereditary Fructose Intolerance Diagnosed in Adulthood.Gut and liver · 2021Article
- Nutrition and microRNAs: Novel Insights to Fight Sarcopenia.Antioxidants (Basel, Switzerland) · 2020Review
- Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease.Cellular and molecular life sciences : CMLS · 2020Review
- Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3' untranslated region of the aldolase B gene.SAGE open medical case reports · 2019Article
- Ketohexokinase C blockade ameliorates fructose-induced metabolic dysfunction in fructose-sensitive mice.The Journal of clinical investigation · 2018Article
- Review
- Uric acid and transforming growth factor in fructose-induced production of reactive oxygen species in skeletal muscle.Nutrition reviews · 2016Review
- Hereditary fructose intolerance in Brazilian patients.Molecular genetics and metabolism reports · 2015Article
- Analysis and interpretation of transcriptomic data obtained from extended Warburg effect genes in patients with clear cell renal cell carcinoma.Oncoscience · 2015Article
- Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.JIMD reports · 2015Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the prevalence of seven known HFI-causing alleles (A149P, A174D, N334K, Delta4E4, R59Op, A337V, and L256P) in this population. Allele-specific oligonucleotide hybridization analysis was performed on polymerase chain reaction (PCR)-amplified genomic DNA from these patients. In the American population, the missense mutations A149P and A174D are the two most common alleles, with frequencies of 44% and 9%, respectively. In addition, the nonsense mutations Delta4E4 and R59Op are the next most common alleles, with each having a frequency of 4%. Together, the frequencies of all seven alleles make up 65% of HFI-causing alleles in this population. Worldwide, these same alleles make up 82% of HFI-causing mutations. This difference indicates that screening for common HFI alleles is more difficult in the American population. Nevertheless, a genetic screen for diagnosing HFI in America can be improved by including all seven alleles studied here. Lastly, identification of HFI patients presenting with classic symptoms and who have homozygous null genotypes indicates that aldolase B is not required for proper development or metabolic maintenance.
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