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Hereditary Fructose Intolerance - DOAJ

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Last Updated: 09 September 2022

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Estimation of hereditary fructose intolerance prevalence in the Chinese population

We obtained the genotype and clinical information of HFI patients from the CCGT database and published literature to investigate genotypeu2013phenotype correlations in order to investigate genotypeu2013phenotype correlations. By analyzing the genetic signature of ALDOB in the Chinese population, two variants of gnomAD also had significantly higher AFs in the Chinese population than in the non-Finland European population. Patients carrying two separate variant locations were more likely to experience nausea, and patients in two less populated variant sites were more likely to experience aversion to candy and fruit. Conclusion The prevalence of HFI in the Chinese population is extremely low, and there is no reason to add HFI testing to the existing newborn screening programs if medical costs are factored in.

Source link: https://doi.org/10.1186/s13023-022-02487-3


Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Introduction: Hereditary fructose intolerance is a rare genetic disorder of fructose metabolism owing to aldolase B enzyme deficiency. In a cohort of young patients affected by HFI, we investigate possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term basis. Patients with p. A150P homozygous blood ALT values were lower at diagnosis than those with the p. A175D variant homozygotes disease. Conclusion: A group of HFI patients on a FSS-free diet had persistent mild hypercalcaemia that did not have anything to do with fructose intake. The enzyme levels in serum liver enzymes can be affected by gene mutations.

Source link: https://doi.org/10.3390/nu11102397


Safety of vaccines administration in hereditary fructose intolerance

To avoid symptoms of intoxication, patients with hereditary fructose intolerance must adhere to a life-long fructose diet and drug restriction. The manuscript explains the safe administration of the majority of vaccines in patients with hereditary fructose intolerance as a safe threshold of 2. 4 mg/kg/dose was recently established for oral and parenteral routes.

Source link: https://doi.org/10.1186/s13023-020-01552-z


Hereditary fructose intolerance in Brazilian patients

Introduction: Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism, autosomal recessive, resulting in a lack of aldolase B. Four unrelated patients from Minas Gerais, Brazil, were identified as non-consanguineous parents, according to their clinical and molecular analyses. Results and discussion: The age of diagnosis was between 10 and 32 months, but the severity of the disease was linked to the rise of age at diagnosis. In one child, a child with severe renal tubular acidosis appeared. Following dietary change, all patients had remission of symptoms. This was the first homozygous patient for the mutation c. 524C > A, according to the author, others were compound heterozygous for c. 360_363C > T mutations. A, B > T mutations, c. 524C> A, and c. 524C > A. Mutations in our Brazilian patients differ from those in international literature.

Source link: https://doi.org/10.1016/j.ymgmr.2015.05.007


Kidney and vascular function in adult patients with hereditary fructose intolerance

Despite a fructose-restricted diet, results have shown that patients with hereditary fructose intolerance are more prone to elevated intrahepatic triglyceride levels, according to previous studies. paraphrasedoutput:Methods: Nineteen adult HFI patients were compared to healthy control individuals matched for age, sex, and body mass index in comparison to healthy control groups. Median systolic blood pressure was significantly higher among HFI patients, according to the study. Only sE-selectin was significantly higher in HFI patients than any other endothelial function markers. The eGFR in HFI patients was significantly higher than in healthy controls. Adult HFI patients on a fructose-restricted diet have a higher sElectin level and marginally elevated systolic blood pressure, which may have posed a greater risk of cardiovascular disease in time.

Source link: https://doi.org/10.1016/j.ymgmr.2020.100600


Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report

Following a gluten-free diet, the possibility of a correlation between CD and HFI should be investigated, particularly in patients with a lack of improvement after a gluten-free diet. Children with HFI often have a wide variety of signs, but research indicating a strong aversion to fruits and candy can help diagnose the condition. Both CD and HFI can show liver steatosis with hypertransaminasemia.

Source link: https://doi.org/10.3390/pediatric13040070


Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

When an FSS-restrictive diet is followed, CDT results rise; however, recent studies on CDT and fructose intake correlations are inconsistent. In a cohort of paediatric and adult fructosemic patients, we investigated the complete serum sialoTf profile and correlated it to FSS diet intake and hepatic values. The profiles of serum sialoTf from genetically ill HFI patients on an FSS-restricted diet and their age-, sex- and body mass index-paired controls were analyzed by capillary zone electrophoresis. We found that asialoTf's dietary intake was positively related to HFI patients' dietary intake of sucrose and FSS, and that pentasialoTf+hexasialoTf was negatively associated with reduced dietary intake of fructose and FSS. In addition, the tetrasialoTf/disialoTf ratio more clearly distinguished treated HFI patients from healthy controls, with an area under the ROC curve of 0. 97, 92% sensitivity, 94% specificity, and 93% accuracy.

Source link: https://doi.org/10.3390/jcm10132932

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions