IntoleranceMetabolismDisordersGlucoseAldolaseHypoglycemiaCharacterized by the excretionAmounts of fructoseTyrosinemiaSucroseGlycogenSorbitolEnzymeSyndromeIngestionMalabsorptionAcidosisSymptomsInherited Metabolic DiseaseDiagnosisUrineAbnormalitiesCarbohydratesAcuteBenignDiabetesGlycolysisDisturbancesFacilitated by enzymesInfantsDiseasesDigestDietDietaryMice
Intolerance33
- Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol. (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)
- Fructose intolerance is caused by the lack of an enzyme needed to break down fructose. (msdmanuals.com)
- In hereditary fructose intolerance, both parents of the affected child carry a copy of the abnormal gene. (msdmanuals.com)
- Fructokinase deficiency, which is a type of hereditary fructose intolerance, does not cause any symptoms. (msdmanuals.com)
- Doctors base the diagnosis of hereditary fructose intolerance on the person's symptoms after consuming fructose and on a chemical analysis of a sample of liver tissue. (msdmanuals.com)
- Late onset of a metabolic disease is often triggered by acute metabolic stresses, such as infection, fasting, or consumption of a nutrient for which a metabolic intolerance exists. (newworldencyclopedia.org)
- Hereditary fructose intolerance (HFI) is a genetic disease characterized as a defect in aldolase B enzyme, causing improper processing of fructose-1-phosphate (F1P), leading to a toxic buildup of F1P in bodily tissue. (medscape.com)
- 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)
- Hereditary fructose intolerance (HFI) is a difficult and potentially lethal orphan disease associated with impaired fructose metabolism. (princeton.edu)
- Running head: HEREDITARY FRUCTOSE INTOLERANCE 1 HEREDITARY FRUCTOSE INTOLERANCE 5 Hereditary fructose intolerance Name Institution Professor Course Date Introduction Metabolic reactions are considered vital in any living organism. (essaylab.com)
- Hereditary fructose intolerance for instance interferes with the ability of human body to digest fructose (Hoffmann, Zschocke & Nyhan, 2010). (essaylab.com)
- Hereditary Fructose Intolerance AldolaseB is found mainly in the liver. (studymode.com)
- 1 Western Governors University 2 Hereditary Fructose Intolerance Metabolism is the process of cellular respiration. (studymode.com)
- Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. (sdsu.edu)
- Slow-K tablets contain sucrose and should not be used by people with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase insufficiency. (lynchspharmacy.com)
- Intolerance can result from the absence of specific chemicals or enzymes needed to digest a food substance, as in hereditary fructose intolerance. (olsreview.com)
- Food intolerance reactions can include pharmacologic, metabolic, and gastro-intestinal responses to foods or food compounds. (olsreview.com)
- Patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase insufficiency should not take this medicine. (tajgenerics.com)
- 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)
- 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)
Metabolism13
- Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
- Overview of Carbohydrate Metabolism Disorders Carbohydrate metabolism disorders are hereditary metabolic disorders. (msdmanuals.com)
- Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. (msdmanuals.com)
- Metabolic Pathways The metabolism controls the material and energy resources of the cell. (studymode.com)
- Fructose Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
- This graph shows the total number of publications written about "Fructose Metabolism, Inborn Errors" by people in this website by year, and whether "Fructose Metabolism, Inborn Errors" was a major or minor topic of these publications. (sdsu.edu)
- Below are the most recent publications written about "Fructose Metabolism, Inborn Errors" by people in Profiles. (sdsu.edu)
- An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. (ouhsc.edu)
- Carbohydrate metabolism disorders are a group of metabolic disorders. (medlineplus.gov)
- Metabolic food reactions are due to inborn or acquired errors of metabolism of nutrients, such as in lactase deficiency, phenylketonuria and favism. (olsreview.com)
- Commonly the term metabolism defines the breakdown of food and how its components (carbohydrates, fats and proteins) are transformed into energy via a sequence of chemical reactions (metabolic pathways) which are controlled by large numbers of different enzymes. (oncohemakey.com)
- Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
- Since the brain and nervous system control every function of the body, the brain can switch its metabolism response from glucose to fat metabolic function when the brain is damaged by too much glucose. (livelifewellall.com)
Disorders9
- These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
- Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. (msdmanuals.com)
- Children who have one of these disorders are missing one of the enzymes needed to break down (metabolize) fructose. (msdmanuals.com)
- Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
- Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
- Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
- A metabolic syndrome is a group of interrelated common clinical disorders. (naturalayurvedictreatment.com)
- The symptoms of metabolic disorders vary widely depending upon the metabolic problem present. (naturalayurvedictreatment.com)
- People with rare inherited metabolic disorders called acute porphyrias. (telehealthpharmacy.ie)
Glucose7
- Fructose is replaced in the diet by glucose, maltose or other sugars. (wikipedia.org)
- Treatment includes avoiding fructose in the diet and, when needed, taking glucose tablets. (msdmanuals.com)
- As a result, a by-product of fructose accumulates in the body, blocking the formation of glycogen and its conversion to glucose for use as energy. (msdmanuals.com)
- Aldolase is an enzyme responsible for breaking down glucose products into energy, specifically converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehydes 3-phosphate. (medscape.com)
- Cancer cells also enhance glucose-uptake to fuel these enhanced metabolic activities [ 2 ]. (degruyter.com)
- High abundance of glucose in the cytoplasm of a cancer cell also increases flux into other metabolic pathways such as hexosamine biosynthetic pathway (HBP) [ 7 ]. (degruyter.com)
- Carbohydrates, as monosaccharides (glucose, fructose, galactose), are absorbed in the intestine and then transported to the liver where excess glucose, galactose and fructose are converted to glucose-6-phosphate (G-6-PO 4 ). (oncohemakey.com)
Aldolase9
- If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, results in the death of liver cells. (wikipedia.org)
- Fructose-1-phosphate is metabolized by aldolase B into dihydroxyacetone phosphate and glyceraldehyde. (wikipedia.org)
- Once identified, parents of infants who carry mutant aldolase B alleles leading to HFI, or older individuals who have clinical histories compatible with HFI can be identified and counselled with regard to preventive therapy: dietary exclusion of foods containing fructose, sucrose, or sorbitol. (wikipedia.org)
- Aldolase is a cytoplasmic enzyme responsible for converting sugar into energy, specifically splitting aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehydes 3-phosphate (a reversible reaction). (medscape.com)
- In gluconeogenesis, aldolase catalyzes the reduction of phosphoenolpyruvate to fructose 1,6-bisphosphate. (medscape.com)
- In glycolysis, aldolase catalyzes fructose 1,6-bisphosphate to phosphoenolpyruvate through an oxidative reaction. (medscape.com)
- 2, 3] Aldolase also reversibly cleaves fructose 1-phosphate to glyceraldehyde and dihydroxyacetone phosphate. (medscape.com)
- 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)
- Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. (biomedcentral.com)
Hypoglycemia3
- If possible, individuals who suspect they might have HFI should avoid testing via fructose challenge as the results are non-conclusive for individuals with HFI, and even if the diagnostic administration of fructose is properly controlled, profound hypoglycemia and its sequelae can threaten the patient's well-being. (wikipedia.org)
- Ingesting more than tiny amounts of fructose or sucrose causes low blood sugar levels ( hypoglycemia ), with sweating, confusion, and sometimes seizures and coma. (msdmanuals.com)
- The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. (ouhsc.edu)
Characterized by the excretion2
- Deficiencies of fructokinase cause essential fructosuria, a clinically benign condition characterized by the excretion of unmetabolized fructose in the urine. (wikipedia.org)
- It is characterized by the excretion of fruit sugar (fructose) in the urine. (diabeteshealthmatters.com)
Amounts of fructose2
- When patients are diagnosed with HFI, a dietary history will often reveal an aversion to fruit and other foods that contain large amounts of fructose. (wikipedia.org)
- Very small amounts of fructose cause low blood sugar levels and can lead to kidney and liver damage. (msdmanuals.com)
Tyrosinemia1
- a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1). (nih.gov)
Sucrose6
- Affected individuals are asymptomatic and healthy, provided they do not ingest foods containing fructose or any of its common precursors, sucrose and sorbitol. (wikipedia.org)
- In the past, infants often became symptomatic when they were introduced to formulas that were sweetened with fructose or sucrose. (wikipedia.org)
- Fructose is a sugar present in table sugar (sucrose), honey, and many fruits. (msdmanuals.com)
- While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. (nih.gov)
- Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. (ouhsc.edu)
- chronic growth restriction/failure to thrive) following dietary exposure to fructose, sucrose, or sorbitol. (blueprintgenetics.com)
Glycogen1
- This enzyme is needed for the synthesis of glycogen (the body's form of stored energy) from fructose. (diabeteshealthmatters.com)
Sorbitol1
- Fructose is also present in sorbitol (a sugar substitute). (msdmanuals.com)
Enzyme3
- that is caused by a lack of the enzyme needed to metabolize fructose. (msdmanuals.com)
- For instance, the digestion of fructose is facilitated by the enzyme. (essaylab.com)
- Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. (bionity.com)
Syndrome8
- The metabolic syndrome is prevalent and is associated with a greater risk of atherosclerotic cardiovascular disease than any of its individual components. (naturalayurvedictreatment.com)
- Metabolic syndrome is a collection of heart diseases causing factors that increase the chance of getting Heart disease, Stroke, and Type 2 Diabetes. (naturalayurvedictreatment.com)
- The number of cases of metabolic syndrome increases with age. (naturalayurvedictreatment.com)
- All the laxanas of medovahasrotodusti can be correlated with the initial stage of metabolic syndrome. (naturalayurvedictreatment.com)
- A metabolic syndrome without any complication can be compared with Apathyanimitaj Prameh. (naturalayurvedictreatment.com)
- 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)
- How did they diagnose your Metabolic Syndrome? (healthrising.org)
- Renal tubular acidosis (RTA) is a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal serum anion gap. (bmj.com)
Ingestion2
- After ingestion, fructose is converted to fructose-1-phosphate in the liver by fructokinase. (wikipedia.org)
- Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. (ouhsc.edu)
Malabsorption1
- It may be a result of an abnormality in the body's ability to absorb nutrients, as occurs in fructose malabsorption. (olsreview.com)
Acidosis2
- People with increased acid levels in their blood (metabolic acidosis). (lynchspharmacy.com)
- https://www.doi.org/10.1007/s12325-020-01587-5 http://www.ncbi.nlm.nih.gov/pubmed/33367987?tool=bestpractice.com The acid retention or bicarbonate loss results in hyperchloremic metabolic acidosis marked by low serum bicarbonate and a normal anion gap. (bmj.com)
Symptoms2
- The key identifying feature of HFI is the appearance of symptoms with the introduction of fructose to the diet. (wikipedia.org)
- 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)
Inherited Metabolic Disease1
- Journal of Inherited Metabolic Disease , 33 (2), 105-112. (brighton.ac.uk)
Diagnosis1
- The presence of fructose in the blood and urine may lead to an incorrect diagnosis of diabetes mellitus. (diabeteshealthmatters.com)
Urine2
- Normally, no fructose is excreted in the urine. (diabeteshealthmatters.com)
- Hereditary coproporphyria (HCP) is a hereditary genetic disease that causes purple urine, photo sensitivity , and attacks of abdominal pain. (bionity.com)
Abnormalities1
- Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic. (merckmanuals.com)
Carbohydrates1
- A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
Acute1
- Stable patients without acute intoxication events are treated by careful dietary planning that avoids fructose and its metabolic precursors. (wikipedia.org)
Benign1
- Fructosuria is a rare but benign inherited metabolic disorder. (diabeteshealthmatters.com)
Diabetes1
- One such example of metabolic disorder is diabetes. (medstorerx.com)
Glycolysis1
- The glycolytic pathway or glycolysis is a metabolic process that leads to the formation of the energy source adenosine triphosphate (ATP) in the body. (studymode.com)
Disturbances1
- Excludes: endocrine and metabolic disturbances specific to the fetus and newborn (775.0-775.9) Note: All neoplasms, whether functionally active or not, are classified in Chapter 2. (theodora.com)
Facilitated by enzymes1
- Metabolic reactions are facilitated by enzymes. (essaylab.com)
Infants1
- While HFI is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of HFI. (wikipedia.org)
Diseases2
- As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
- The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. (cdc.gov)
Digest1
- If a parent suspects that a child cannot digest fructose, they should contact a doctor without delay. (diabeteshealthmatters.com)
Diet2
- This suspicion is typically confirmed by molecular analysis Treatment of HFI involves strict avoidance of fructose in the diet. (wikipedia.org)
- Older patients with HFI typically self-select a diet low in fructose, even before being diagnosed. (wikipedia.org)
Dietary1
- Because of the ease of therapy (dietary exclusion of fructose), HFI can be effectively managed if properly diagnosed. (wikipedia.org)
Mice1
- 4. T ljedal I-B & Hellman B: Morphological characteristics of the epididymal adipose tissue in different types of hereditary obese mice. (taljedal.se)