keyword
https://read.qxmd.com/read/38470684/descriptive-analysis-of-carrier-and-affected-hereditary-fructose-intolerance-in-women-during-pregnancy
#1
JOURNAL ARTICLE
Estefanía Zuriaga, Sonia Santander, Laura Lomba, Elsa Izquierdo-García, María José Luesma
(1) Background: Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder resulting from aldolase B deficiency, requiring a fructose, sorbitol and sucrose (FSS)-free diet. Limited information exists on the relationship between pregnancy outcomes and HFI. This study aims to analyze pregnancy-related factors in a cohort of thirty Spanish women, with twenty-three being carriers and seven being HFI-affected (45 pregnancies). (2) Methods: A descriptive, cross-sectional and retrospective study utilized an anonymous questionnaire...
February 29, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38366592/high-fat-intake-sustains-sorbitol-intolerance-after-antibiotic-mediated-clostridia-depletion-from-the-gut-microbiota
#2
JOURNAL ARTICLE
Jee-Yon Lee, Connor R Tiffany, Scott P Mahan, Matthew Kellom, Andrew W L Rogers, Henry Nguyen, Eric T Stevens, Hugo L P Masson, Kohei Yamazaki, Maria L Marco, Emiley A Eloe-Fadrosh, Peter J Turnbaugh, Andreas J Bäumler
Carbohydrate intolerance, commonly linked to the consumption of lactose, fructose, or sorbitol, affects up to 30% of the population in high-income countries. Although sorbitol intolerance is attributed to malabsorption, the underlying mechanism remains unresolved. Here, we show that a history of antibiotic exposure combined with high fat intake triggered long-lasting sorbitol intolerance in mice by reducing Clostridia abundance, which impaired microbial sorbitol catabolism. The restoration of sorbitol catabolism by inoculation with probiotic Escherichia coli protected mice against sorbitol intolerance but did not restore Clostridia abundance...
February 9, 2024: Cell
https://read.qxmd.com/read/38183105/design-of-mobile-and-website-health-application-devices-for-drug-tolerability-in-hereditary-fructose-intolerance
#3
JOURNAL ARTICLE
Elsa Izquierdo-García, Andrea Lázaro-Cebas, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra, Ismael Escobar-Rodríguez
BACKGROUND: Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse excipient tolerability in patients with HFI and other related diseases and to design mobile and website health applications to facilitate the search for drugs according to their tolerance. RESULTS: A total of 555 excipients listed in the Spanish Medicines Agency database (July 2023) were classified as suitable for HFI patients, suitable with considerations ((glucose and glucose syrup, intravenous sucrose, oral mannitol, polydextrose, gums and carrageenans, ethanol, sulfite caramel and vanilla), not recommended (intravenous mannitol) and contraindicated (fructose, oral sucrose, invert sugar, sorbitol, maltitol, lactitol, isomaltitol, fruit syrups, honey, sucrose esters and sorbitol esters)...
January 5, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38068827/myths-and-facts-about-food-intolerance-a-narrative-review
#4
REVIEW
Fabiana Zingone, Luisa Bertin, Daria Maniero, Michela Palo, Greta Lorenzon, Brigida Barberio, Carolina Ciacci, Edoardo Vincenzo Savarino
Most adverse reactions to food are patient self-reported and not based on validated tests but nevertheless lead to dietary restrictions, with patients believing that these restrictions will improve their symptoms and quality of life. We aimed to clarify the myths and reality of common food intolerances, giving clinicians a guide on diagnosing and treating these cases. We performed a narrative review of the latest evidence on the widespread food intolerances reported by our patients, giving indications on the clinical presentations, possible tests, and dietary suggestions, and underlining the myths and reality...
November 30, 2023: Nutrients
https://read.qxmd.com/read/37892451/endogenous-fructose-production-and-metabolism-drive-metabolic-dysregulation-and-liver-disease-in-mice-with-hereditary-fructose-intolerance
#5
JOURNAL ARTICLE
Ana Andres-Hernando, David J Orlicky, Masanari Kuwabara, Christina Cicerchi, Michelle Pedler, Mark J Petrash, Richard J Johnson, Dean R Tolan, Miguel A Lanaspa
Excessive intake of sugar, and particularly fructose, is closely associated with the development and progression of metabolic syndrome in humans and animal models. However, genetic disorders in fructose metabolism have very different consequences. While the deficiency of fructokinase, the first enzyme involved in fructose metabolism, is benign and somewhat desirable, missense mutations in the second enzyme, aldolase B, causes a very dramatic and sometimes lethal condition known as hereditary fructose intolerance (HFI)...
October 16, 2023: Nutrients
https://read.qxmd.com/read/37597336/combined-pmm2-cdg-and-hereditary-fructose-intolerance-in-a-patient-with-mild-clinical-presentation
#6
JOURNAL ARTICLE
Xinying Hong, Andrew C Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard Berry, Miao He
We report a patient with an extremely rare, combined diagnosis of PMM2-CDG and hereditary fructose intolerance (HFI). By comparing with other patients, under-galactosylation was identified as a feature of HFI. Fructose/sorbitol/sucrose restriction was initiated right afterwards. The patient is at the mild end of the PMM2-CDG spectrum, raising the question of sorbitol's role in the pathogenesis of PMM2-CDG and whether fructose/sorbitol/sucrose restriction could benefit other PMM2-CDG patients. Additionally, epalrestat, an emerging potential PMM2-CDG therapy, may benefit HFI patients...
August 9, 2023: Molecular Genetics and Metabolism
https://read.qxmd.com/read/36384942/chronic-enteropathy-associated-with-slco2a1-gene-and-hereditary-fructose-intolerance-a-coincidence-of-two-rare-diseases
#7
Utku Dönger, Khaled Warasnhe, Figen Özçay, Zehra Şule Haskoloğlu, Halil İbrahim Aydın, Serdar Ceylaner
Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides CEAS, SLCO2A1 mutations cause primary hypertrophic osteoarthropathy (PHO) which is considered as an extraintestinal manifestation in CEAS patients. Since CEAS and Crohn's disease are clinically indistinguishable, patients are often misdiagnosed with Crohn's disease. Herein, we describe a 4-year-old Turkish girl with CEAS due to homozygous pathogenic variant (c...
November 13, 2022: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://read.qxmd.com/read/36052111/hereditary-fructose-intolerance-a-comprehensive-review
#8
REVIEW
Sumit Kumar Singh, Moinak Sen Sarma
Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects. Most commonly children are affected with gastrointestinal symptoms, feeding issues, aversion to sweets and hypoglycemia. Liver manifestations include an asymptomatic increase of transaminases, steatohepatitis and rarely liver failure...
July 9, 2022: World Journal of Clinical Pediatrics
https://read.qxmd.com/read/35854131/vitamin-c-and-folate-status-in-hereditary-fructose-intolerance
#9
JOURNAL ARTICLE
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de Las Heras
BACKGROUND: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients...
July 19, 2022: European Journal of Clinical Nutrition
https://read.qxmd.com/read/35565890/carbohydrate-maldigestion-and-intolerance
#10
REVIEW
Fernando Fernández-Bañares
This review summarizes dietary carbohydrate intolerance conditions and recent advances on the possible role of carbohydrate maldigestion and dietary outcomes in patients with functional bowel disease. When malabsorbed carbohydrates reach the colon, they are fermented by colonic bacteria, with the production of short-chain fatty acids and gas lowering colonic pH. The appearance of diarrhoea or symptoms of flatulence depends in part on the balance between the production and elimination of these fermentation products...
May 4, 2022: Nutrients
https://read.qxmd.com/read/35358012/reply-letter-to-the-editor-concerning-the-article-safety-of-sars-cov-2-vaccines-administration-for-adult-patients-with-hereditary-fructose-intolerance
#11
COMMENT
Elsa Izquierdo-Garcia, Elena Alba Alvaro Alonso, Berta Montero Pastor, Ana Such Díaz, Ismael Escobar Rodríguez
According to the current European medicines legislation, on the labeling is mandatory a warning contraindicating for hereditary fructose intolerance (HFI) patients medicines with oral or parenteral fructose and sorbitol, and oral sucrose, invert sugar, isomaltitol, lactitol and maltitol, but parenteral sucrose is not mentioned. Intravenous administration of sucrose does not increase blood glucose concentrations, because sucrose is poorly oxidized to CO2 and mainly excreted in the urine as a disaccharide; absence of enzimatic activity outside the gut explains why there is not a warning for parenteral sucrose presentations...
November 30, 2022: Human Vaccines & Immunotherapeutics
https://read.qxmd.com/read/34473597/reply-letter-to-safety-of-sars-cov-2-vaccines-administration-for-adult-patients-with-hereditary-fructose-intolerance
#12
JOURNAL ARTICLE
Rebeca Saborido-Fiaño, Nazareth Martinón-Torres, Vanesa Crujeiras-Martinez, Maria Luz Couce, Rosaura Leis
In the letter, Urro et al. performed a search on the sucrose, fructose and sorbitol content in the approved Sars-Cov-2 vaccines and they concluded that these vaccines can be safely administered in adults affected by Hereditary fructose intolerance.The Pfizer-BioNTech COVID-19 Vaccine is currently approved for use in adolescents ≥ 12 years and the Moderna COVID-19 vaccine is close to approval for use in children over 12 years of age. Furthermore, both vaccines have initiated clinical trials that will include infant as young as 6 months...
September 2, 2021: Human Vaccines & Immunotherapeutics
https://read.qxmd.com/read/34208868/transferrin-isoforms-old-but-new-biomarkers-in-hereditary-fructose-intolerance
#13
JOURNAL ARTICLE
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de Las Heras
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI...
June 30, 2021: Journal of Clinical Medicine
https://read.qxmd.com/read/33802839/hydrogen-breath-tests-are-they-really-useful-in-the-nutritional-management-of-digestive-disease
#14
REVIEW
Paolo Usai-Satta, Francesco Oppia, Mariantonia Lai, Francesco Cabras
BACKGROUND: Carbohydrate malabsorption is a frequent digestive problem associated with abdominal pain, bloating and diarrhea. Hydrogen breath testing (BT) represents the most reliable and validated diagnostic technique. The aim of this manuscript was to clarify the usefulness of BTs in the nutritional management of these disorders. METHODS: A literature search for BT related to carbohydrate malabsorption was carried out using the online databases of Pubmed, Medline and Cochrane...
March 17, 2021: Nutrients
https://read.qxmd.com/read/33653220/letter-to-the-editor-concerning-the-article-safety-of-vaccines-administration-in-hereditary-fructose-intolerance
#15
JOURNAL ARTICLE
Rebeca Saborido-Fiaño, Nazareth Martinón-Torres, Vanesa Crujeiras-Martinez, Maria Luz Couce, Rosaura Leis
The most important approach for the management of hereditary fructose intolerance is a strict avoidance of fructose, sucrose and sorbitol from the diet and medications. A safe threshold of 2.4 mg/kg/dose was recently established by the Instituto Superiore di Sanità of Italy for both oral and parenteral routes, thus shouldering a safe administration of a majority of vaccines in these patients. This would not include, Rotarix® pre-established oral suspension and Rotateq® vaccines, which are indeed contraindicated...
August 3, 2021: Human Vaccines & Immunotherapeutics
https://read.qxmd.com/read/31591370/daily-fructose-traces-intake-and-liver-injury-in-children-with-hereditary-fructose-intolerance
#16
JOURNAL ARTICLE
Fabiola Di Dato, Simona Spadarella, Maria Giovanna Puoti, Maria Grazia Caprio, Severo Pagliardini, Claudia Zuppaldi, Gianfranco Vallone, Simona Fecarotta, Gabriella Esposito, Raffaele Iorio, Giancarlo Parenti, Maria Immacolata Spagnuolo
BACKGROUND: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. METHODS: Patients' clinical data and fructose daily intake were retrospectively collected...
October 7, 2019: Nutrients
https://read.qxmd.com/read/30619935/dietary-exclusion-of-fructose-and-lactose-after-positive-breath-tests-improved-rapid-transit-constipation-in-children
#17
JOURNAL ARTICLE
Kasturi Waingankar, Christoper Lai, Vishal Punwani, Jeremy Wong, John M Hutson, Bridget R Southwell
Aims: Exclusion of f ermentable o ligosaccharides, d isaccharides, m onosaccharides, and p olyols (FODMAPs) from the diet is effective in alleviating symptoms of irritable bowel syndrome (IBS) in adults. Rapid-transit constipation (RTC) is a recently discovered subset of chronic constipation and has been linked to food intolerance. The aim of this study was to audit the effect of specific FODMAP elimination diets in children with RTC. Methods: This was an audit of children presenting to a tertiary children's hospital surgeon with refractory chronic constipation who had rapid transit in the proximal colon on nuclear imaging; had hydrogen/methane breath tests for fructose, lactose, and/or sorbitol intolerance; and were advised to exclude positive sugar under clinical supervision...
December 2018: JGH Open: An Open Access Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/28801371/small-intestinal-bacterial-overgrowth-may-increase-the-likelihood-of-lactose-and-sorbitol-but-not-fructose-intolerance-false-positive-diagnosis
#18
JOURNAL ARTICLE
Tsachi Tsadok Perets, Dalal Hamouda, Olga Layfer, Olga Ashorov, Doron Boltin, Sigal Levy, Yaron Niv, Ram Dickman
BACKGROUND: Small intestinal bacterial overgrowth (SIBO) is defined as a bacterial count of more than 105 colony-forming units per milliliter in duodenal aspirate. It shares many symptoms with carbohydrate intolerance, which makes the clinical distinction of the disorders difficult. The aim of the study was to examine the relationship between a positive carbohydrate breath test and the presence of SIBO suggested by a positive lactulose hydrogen breath test. METHODS: The electronic database of the gastroenterology laboratory of a tertiary medical center was searched for all patients clinically tested for SIBO in 2012-2013 for whom previous results for lactose, fructose, and/or sorbitol breath test were available...
August 2017: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/27188621/-food-intolerances-caused-by-enzyme-defects-and-carbohydrate-malassimiliations-lactose-intolerance-and-co
#19
REVIEW
Christiane Schäfer
Apart from allergic conditions, carbohydrate malassimiliations (sugar metabolism disorders) are classified within the group of food intolerances. These dose-dependent, yet non-immunological reactions require gastroenterological or internal diagnosis following nutritional therapy. Intolerances to carbohydrates such as lactose (milk sugar) and fructose (fruit sugar) in addition to sugar alcohols (sorbitol, mannitol, lactitol etc.) have been gaining increasing attention in recent decades as they are the cause of a wide range of gastrointestinal symptoms...
June 2016: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://read.qxmd.com/read/25694210/role-of-fodmaps-in-patients-with-irritable-bowel-syndrome
#20
REVIEW
Pasquale Mansueto, Aurelio Seidita, Alberto D'Alcamo, Antonio Carroccio
Irritable bowel syndrome (IBS) is a condition characterized by abdominal pain, bloating, flatus, and altered bowel habits. The role of dietary components in inducing IBS symptoms is difficult to explore. To date, foods are not considered a cause but rather symptom-triggering factors. Particular interest has been given to the so-called FODMAPs (fermentable oligo-, di-, and monosaccharides and polyols). We aimed to summarize the evidence from the most common approaches to manage suspected food intolerance in IBS, with a particular interest in the role of FODMAPs and the effects of a low FODMAP diet...
October 2015: Nutrition in Clinical Practice
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