ReviewJournal of medical genetics1998
Hereditary fructose intolerance.
Review in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 191 citations in OpenAlex.
- Fructose 1-phosphate inhibits mannose phosphate isomerase to suppress hepatocellular carcinogenesis.Signal transduction and targeted therapy · 2026Article
- Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.Molecular syndromology · 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
- Proteomics Used in Identifying Novel Correlates of Disease in Pediatric Metabolic Dysfunction-Associated Steatotic Liver Disease.Clinical and translational science · 2025Article
- Food Hypersensitivity: Distinguishing Allergy from Intolerance, Main Characteristics, and Symptoms-A Narrative Review.Nutrients · 2025Review
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.Journal of inherited metabolic disease · 2025Article
- Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance.Communications biology · 2024Article
- Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.bioRxiv : the preprint server for biology · 2024Article
- A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.Journal of clinical medicine · 2024Article
- Myths and Facts about Food Intolerance: A Narrative Review.Nutrients · 2023Review
- Social and economic difficulties of patients with food intolerances.Postepy dermatologii i alergologii · 2023Article
- Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.The application of clinical genetics · 2023Review
- Vitamin C and folate status in hereditary fructose intolerance.European journal of clinical nutrition · 2022Article
- Reply letter to the editor concerning the article 'Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance'.Human vaccines & immunotherapeutics · 2022Article
- Hereditary fructose intolerance: A comprehensive review.World journal of clinical pediatrics · 2022Review
- Ketohexokinase-mediated fructose metabolism is lost in hepatocellular carcinoma and can be leveraged for metabolic imaging.Science advances · 2022Article
- Molecular aspects of fructose metabolism and metabolic disease.Cell metabolism · 2021Review
- Review
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars. Continued ingestion of noxious sugars leads to hepatic and renal injury and growth retardation; parenteral administration of fructose or sorbitol may be fatal. Direct detection of a few mutations in the human aldolase B gene on chromosome 9q facilitates the genetic diagnosis of HFI in many symptomatic patients. The severity of the disease phenotype appears to be independent of the nature of the aldolase B gene mutations so far identified. It appears that hitherto there has been little, if any, selection against mutant aldolase B alleles in the population: in the UK, approximately 1.3% of neonates harbour one copy of the prevalent A149P disease allele. The ascendance of sugar as a major dietary nutrient, especially in western societies, may account for the increasing recognition of HFI as a nutritional disease and has shown the prevalence of mutant aldolase B genes in the general population. The severity of clinical expression correlates well with the immediate nutritional environment, age, culture, and eating habits of affected subjects. Here we review the biochemical, genetic, and molecular basis of human aldolase B deficiency in HFI, a disorder which responds to dietary therapy and in which the principal manifestations of disease are thus preventable.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.