ArticleGut and liver2021
Hereditary Fructose Intolerance Diagnosed in Adulthood.
Article in Gut and liver, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 17 citations in OpenAlex.
- Current Dietary Practices in Hereditary Fructose Intolerance: Results from a National Survey Across 15 Italian Metabolic Centres.Nutrients · 2026Article
- Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.Molecular syndromology · 2026Article
- Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.Nutrients · 2026Article
- A fructose-intolerant patient with acute liver injury: Not only the active ingredient, but also excipients matter.Hepatology forum · 2026Article
- 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
- Unmasking Hereditary Fructose Intolerance: Turning a Rare Diagnosis Into a Path for Healing.Clinical case reports · 2025Article
- Descriptive Analysis of Carrier and Affected Hereditary Fructose Intolerance in Women during Pregnancy.Healthcare (Basel, Switzerland) · 2024Article
- Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance.Diseases (Basel, Switzerland) · 2024Article
- Myths and Facts about Food Intolerance: A Narrative Review.Nutrients · 2023Review
- 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
- "Sweet death": Fructose as a metabolic toxin that targets the gut-liver axis.Cell metabolism · 2021Review
- Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia-A Case Report.Pediatric reports · 2021Article
- Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive, liver failure, renal failure, and, eventually, death. HFI usually manifests in infants when they are being weaned off of breastmilk. Because HFI has an excellent prognosis when patients maintain a strict restrictive diet, some patients remain undiagnosed due to the voluntary avoidance of sweet foods. In the past, HFI was diagnosed using a fructose tolerance test, liver enzyme assays or intestinal biopsy specimens. Currently, HFI is diagnosed through the analysis of aldolase B mutations. Here, HFI was diagnosed in a 41-year-old woman who complained of sweating, nausea, and vomiting after consuming sweets. She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. This is the first report of a Korean HFI patient diagnosed in adulthood.
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