IntoleranceMetabolismResponse to D-fructose challengeAldolaseSorbitolDeficiencyGlucoseHepaticPatientsRenalSymptomsDiagnosisEnzymeIntakeSucroseIngestionMalabsorptionDisorderLiverPhosphateSyndromeFruitsSugarProteinEfficacyEpidemiologyTreatmentPartiallyDecreaseFruitBloodJuicesChildrenGenetic variantsToxicitySugars
Intolerance30
- Hereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. (medlineplus.gov)
- Hereditary fructose intolerance is inherited, which means it can be passed down through families. (medlineplus.gov)
- The early symptoms of fructose intolerance are similar to those of galactosemia (inability to use the sugar galactose). (medlineplus.gov)
- Hereditary fructose intolerance may be mild or severe. (medlineplus.gov)
- Couples with a family history of fructose intolerance who wish to have a baby may consider genetic counseling. (medlineplus.gov)
- Defects in this gene have been identified as the cause of hereditary fructose intolerance (HFI). (wikipedia.org)
- Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. (brighton.ac.uk)
- This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene. (brighton.ac.uk)
- Timson, David J. / The biochemical basis of hereditary fructose intolerance . (brighton.ac.uk)
- Patients with rare hereditary problems of fructose intolerance should not take this medicine. (hepa-merz.com)
- Hereditary fructose intolerance (HFI) is a difficult and potentially lethal orphan disease associated with impaired fructose metabolism. (princeton.edu)
- Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (cdc.gov)
- Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (cdc.gov)
- Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. (cdc.gov)
- Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance. (cdc.gov)
- Molecular and clinical findings of Turkish patients with hereditary fructose intolerance. (cdc.gov)
- Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance. (cdc.gov)
- Estimation of hereditary fructose intolerance prevalence in the Chinese population. (cdc.gov)
- Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance. (cdc.gov)
- Patients with a rare hereditary disease - impaired fructose intolerance, this drug should not be taken. (rxeli.com)
- As the tablet coat contains sucrose (41.2 mg), patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase- isomaltase insufficiency should not take Buscopan Tablets. (janusinfo.se)
- Is there a connection between celiac disease and fructose intolerance? (schaer-foodservice.com)
- Hereditary fructose intolerance , a hereditary disorder of fruit sugar metabolization, is a rare enzyme defect involving the breakdown of fructose at the liver level. (schaer-foodservice.com)
- Intestinal fructose intolerance , usually called fructose malabsorption is widespread. (schaer-foodservice.com)
- There are many causes of watery diarrhea, including carbohydrate malabsorption such as lactose, sorbitol, and fructose intolerance. (gi.org)
- Certain soft drinks, juices, dried fruits and gums contain sorbitol and fructose, which can lead to watery diarrhea in people with sorbitol and fructose intolerance. (gi.org)
- When a person cannot digest or absorb fructose, they may have fructose intolerance known as fructosuria . (diabeteshealthmatters.com)
- When a person has an intolerance to fructose, they may experience bloating, abdominal pain, and diarrhea. (diabeteshealthmatters.com)
- People with a more severe form of fructose intolerance called hereditary fructose intolerance will develop symptoms in infancy. (diabeteshealthmatters.com)
- Hereditary fructose intolerance may be life-threatening without treatment. (diabeteshealthmatters.com)
Metabolism3
- Though it does catalyze the breakdown of glucose, it plays a particularly important role in fructose metabolism, which occurs mostly in the liver, renal cortex, and small intestinal mucosa. (wikipedia.org)
- Results of mutations in the ALDOB gene that codes for the enzyme aldolase B, responsible for the metabolism of fructose (sugar commonly present in fruits and vegetables). (genolifeadn.com)
- Acute intermittent porphyria (AIP) is one of the porphyrias, a group of hereditary diseases that involve defects in heme metabolism and result in excessive secretion of porphyrins and porphyrin precursors. (medscape.com)
Response to D-fructose challenge1
- [ 2 ] They reported the dramatic clinical picture of acidosis in response to D-fructose challenge. (medscape.com)
Aldolase6
- This condition occurs when the body is missing an enzyme called aldolase B. This substance is needed to break down fructose. (medlineplus.gov)
- Aldolase B also known as fructose-bisphosphate aldolase B or liver-type aldolase is one of three isoenzymes (A, B, and C) of the class I fructose 1,6-bisphosphate aldolase enzyme (EC 4.1.2.13), and plays a key role in both glycolysis and gluconeogenesis. (wikipedia.org)
- The generic fructose 1,6-bisphosphate aldolase enzyme catalyzes the reversible cleavage of fructose 1,6-bisphosphate (FBP) into glyceraldehyde 3-phosphate and dihydroxyacetone phosphate (DHAP) as well as the reversible cleavage of fructose 1-phosphate (F1P) into glyceraldehyde and dihydroxyacetone phosphate. (wikipedia.org)
- The generic fructose bisphosphate aldolase enzyme cleaves a 6-carbon fructose sugar into two 3-carbon products in a reverse aldol reaction. (wikipedia.org)
- Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and providing a stronger basis for improved treatment and diagnosis. (brighton.ac.uk)
- In HFI, the deficiency of aldolase B results in the accumulation of intracellular phosphorylated fructose, leading to phosphate sequestration and depletion, increased adenosine triphosphate (ATP) turnover, and a plethora of conditions that lead to clinical manifestations such as fatty liver, hyperuricemia, Fanconi syndrome, and severe hypoglycemia. (princeton.edu)
Sorbitol1
- Sugar substitutes, sorbitol, mannitol and xylitol should also be avoided as they further impede fructose absorption. (schaer-foodservice.com)
Deficiency6
- Patients with FDPase deficiency typically present in the newborn period with symptoms or signs related to hypoglycemia and metabolic acidosis following ingestion of fructose. (medscape.com)
- Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. (medscape.com)
- Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. (medscape.com)
- Herzog B, Morris AA, Saunders C, Eschrich K. Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. (medscape.com)
- Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. (medscape.com)
- The cause of fructose malabsorption is a deficiency in the GLUT-5 transporter protein, which normally transports fructose across the mucosa of the small intestine. (schaer-foodservice.com)
Glucose3
- Fructose 1,6-diphosphatase (FDPase) (also termed fructose 1,6-bisphosphatase) is a focal enzyme in gluconeogenesis via its conversion of fructose 1,6-diphosphate (FDP) to fructose 6-phosphate (F-6-P), which permits endogenous glucose production from gluconeogenic amino acids (eg, alanine and glycine), glycerol, or lactate. (medscape.com)
- According to some studies, foods that contain more glucose than fructose are better tolerated. (schaer-foodservice.com)
- Glucose, fructose and galactose are _____-saccharides. (topqualityessayhelp.com)
Hepatic3
- Fatal hepatic or renal injury following ingestion of fructose has been reported in these patients. (medscape.com)
- Here are two case studies highlighting the management issues you may encounter when treating hepatic encephalopathy (HE). (hepa-merz.com)
- For instance, in rats fed with fructose, hepatic AR is significantly upregulated, which is associated with impaired activation of Stat3 and suppressed activity of PPAR α in the liver [ 9 ]. (hindawi.com)
Patients9
- When challenged with D-fructose, patients lacking FDPase accumulate intrahepatocellular FDP, which inhibits gluconeogenesis and, if intracellular phosphate stores are depleted, inhibits glycogenolysis. (medscape.com)
- Patients develop severe hypoglycemia with metabolic acidosis upon ingestion of fructose. (medscape.com)
- La participation des patients se fait exclusivement sur base volontaire, et est indépendante du suivi clinique et de la prise en charge des patients au sein du centre. (cimm.be)
- A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. (cimm.be)
- This study is an open label extension, looking at the long-term safety and tolerability of GIVINOSTAT in patients who have already taken part in and completed any of the previous studies. (dmdhub.org)
- This is an open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD (Duchenne's muscular dystrophy) patients who have been previously treated in one of the GIVINOSTAT studies. (dmdhub.org)
- In part one of the study, patients were randomised equally to receive SIMPONI 50 mg or placebo at weeks 0, 4, 8 and 12. (jnj.com)
- Beginning at week 16-part two of the study-all patients began receiving open-label SIMPONI 50 mg every four weeks. (jnj.com)
- A case-control study in 50 patients by Storjord et al found evidence that AIP is associated with systemic inflammation. (medscape.com)
Renal1
- a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1). (nih.gov)
Symptoms2
- 19 Skoog S M, Bharucha A E. Dietary fructose and symptoms: a review. (thieme-connect.de)
- If a person experiences any symptoms or is concerned that they cannot tolerate fructose, they should seek treatment to relieve symptoms and improve their quality of life. (diabeteshealthmatters.com)
Diagnosis2
- A controlled fasting study or D-fructose challenge under the supervision of a pediatric endocrinologist in the hospital setting permits recapitulation of the presentation to confirm the diagnosis. (medscape.com)
- The presence of fructose in the blood and urine may lead to an incorrect diagnosis of diabetes mellitus. (diabeteshealthmatters.com)
Enzyme2
- Such studies have revealed changes in enzyme activity, stability and oligomerisation. (brighton.ac.uk)
- This enzyme is needed for the synthesis of glycogen (the body's form of stored energy) from fructose. (diabeteshealthmatters.com)
Intake4
- Most of the damaging effects of the disease can be prevented by decreasing fructose and sucrose intake. (medlineplus.gov)
- Increasing evidence suggests a role for excessive intake of fructose in the Western diet as a contributor to the current epidemics of metabolic syndrome and obesity. (princeton.edu)
- Stina's most recent interest is in the discovery of objective measurements of sugar intake in the form of nutritional biomarkers, such as urinary sucrose and fructose. (lu.se)
- The primary aim of this study was to examine the associations between 10 genetic variants and the intake of total sugar, added sugar, and sugars with sweet taste (i.e., monosaccharides and sucrose) in a middle-aged Swedish population. (lu.se)
Sucrose6
- If a person without this substance eats fructose or sucrose (cane or beet sugar, table sugar), complicated chemical changes occur in the body. (medlineplus.gov)
- Blood sugar will be low, especially after receiving fructose or sucrose. (medlineplus.gov)
- Removing fructose and sucrose from the diet is an effective treatment for most people. (medlineplus.gov)
- Avoiding fructose and sucrose helps most children with this condition. (medlineplus.gov)
- Even removing fructose and sucrose from the diet may not prevent severe liver disease in these children. (medlineplus.gov)
- The aim of this study was to evaluate the pH, buffering capacity (BC), total carbohydrates and sucrose in 15 sugar-free and light processed fruit juices. (bvsalud.org)
Malabsorption2
- In cases of fructose malabsorption , this does not occur. (schaer-foodservice.com)
- Treatment against fructose malabsorption consists of a low-fructose diet, where the individual tolerance limit for fructose is very subjective. (schaer-foodservice.com)
Disorder1
- The study, among the first comprehensive genome-wide analyses of suicide death, also found significant genetic cross-connections to psychiatric diseases and behaviors associated with suicide, including bipolar disorder, schizophrenia, and autism spectrum disorder. (geneticlifehacks.com)
Liver1
- Because T2DM is clinically much predominant than T1DM, in this current study, we wanted to determine whether AR also affects PPAR α in the liver of T2DM db/db mouse models. (hindawi.com)
Phosphate2
- Slight differences in isozyme structure result in different activities for the two substrate molecules: FBP and fructose 1-phosphate. (wikipedia.org)
- When fructose is absorbed, it is phosphorylated by fructokinase to form fructose 1-phosphate. (wikipedia.org)
Syndrome1
- Subsequent literature regarding this newly recognized (but of course not truly new) "mast cell activation syndrome" (MCAS) included case reports as well as formal studies (mostly relatively small scale), reviews, and various proposals for formal diagnostic criteria. (degruyter.com)
Fruits1
- Fructose is a sugar that occurs naturally in fruits, vegetables, and honey. (diabeteshealthmatters.com)
Sugar3
- Fructose is a fruit sugar that naturally occurs in the body. (medlineplus.gov)
- Unfortunately, there is currently no treatment for HFI, and avoiding sugar and fructose has become challenging in our society. (princeton.edu)
- It is characterized by the excretion of fruit sugar (fructose) in the urine. (diabeteshealthmatters.com)
Protein1
- The method exhibited superior separation resolution for protein complexes than conventional native capillary zone electrophoresis (nCZE-MS). In our study, ncIEF-MS achieved liquid-phase separations and MS characterization of seven different forms of a streptavidin homotetramer with variations of N-terminal methionine removal, acetylation, and formylation and four forms of the carbonic anhydrase-zinc complex arising from variations of PTMs (succinimide, deamidation, etc. (bvsalud.org)
Efficacy2
- This extension is expected to last until the drug receives the necessary approvals and is available on the market or the study needs to be stopped due to safety and/or efficacy reasons. (dmdhub.org)
- Observational Study on the Safety and Efficacy of the Medical Product Fructosin. (who.int)
Epidemiology1
- In 2017, Stina began her PhD studies in the Nutritional Epidemiology group. (lu.se)
Treatment3
- During the first month of treatment, platelets count assessment will be performed weekly, while during the second month it will be performed every 2 weeks, in order to strictly monitor this parameter for safety reasons, with the exclusion of subjects coming from study DSC/11/2357/43 for which the first visit will be 4 months after the Visit 1/baseline visit. (dmdhub.org)
- CLASSIFICATION OF EVIDENCE: This study provides Class I evidence of reduction in brain lesion number and volume, as assessed by MRI, over 2 years of delayed-release DMF treatment. (cnr.it)
- This study investigated the effects of (-)-epicatechin (Epi) in young male borderline hypertensive rats (BHR) during two weeks of treatment (Epi group, 100 mg/kg/day p.o.) and two weeks post treatment (PE group). (mdpi.com)
Partially2
- The researchers say the study establishes that suicide death is partially heritable and that it tracks in families independent of the effects of a shared environment. (geneticlifehacks.com)
- Hereditary mechanisms are partially responsible for individual differences in sensitivity to and the preference for sweet taste. (lu.se)
Decrease1
- This study and others that follow are going to allow us to better understand the constellation of risk factors associated with suicide and to help decrease stigma relating to it. (geneticlifehacks.com)
Fruit1
- Many studies showed that there is an increase of tooth erosion in population and that it is related to the consumption of soft drinks, including processed fruit juices. (bvsalud.org)
Blood1
- Studies have even shown that the negative effect on blood cholesterol levels when consuming trans fats is twice that of consuming similar amounts of saturated fat. (nfpt.com)
Juices2
- This study showed that the 15 drinks analyzed had low pH and erosive potential, once most juices presented high BC. (bvsalud.org)
- Nevertheless, further studies that demonstrate the action of these juices in the dental surface are required. (bvsalud.org)
Children1
- Most children that grow estimated with M. Each study, 8 million partisans surgically are recesssive capability and 3 million controller. (reconcile-int.org)
Genetic variants1
- Using a procedure called genome-wide association study (GWAS), the researchers looked at genetic variants known as SNPs (pronounced "snips"), which are essentially pieces of the genetic code. (geneticlifehacks.com)
Toxicity4
- No exhaustive animal studies have been performed for L-ornithine-L-aspartate, to investigate its toxicity in relation to reproduction. (hepa-merz.com)
- In animal studies, no direct or indirect harmful effects of the drug in terms of toxicity to reproductive organs have been established. (rxeli.com)
- Reproductive toxicity studies have not found any data regarding effects on fertility. (rxeli.com)
- Animal studies are insufficient with respect to reproductive toxicity (see section 5.3). (janusinfo.se)
Sugars1
- Her projects study the link between consumption of added sugars and risk of cardiometabolic disease through various potential pathways, including inflammatory pathways and the gut microbiota. (lu.se)