Deficiency fructose intolerance. Medical search. Frequent questions

Within the next 4-5 years, the enzyme defect in aldolase B isozyme in the liver was demonstrated, and hereditary fructose intolerance (HFI) became recognized as a distinct clinical entity. (medscape.com)
The absence of the latter function readily explains the clinical hypoglycemia in individuals with hereditary fructose intolerance. (medscape.com)
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. (medlineplus.gov)
Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose. (medlineplus.gov)
Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. (medlineplus.gov)
The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide. (medlineplus.gov)
Mutations in the ALDOB gene cause hereditary fructose intolerance. (medlineplus.gov)
The combination of decreased cellular energy, low blood sugar, and liver cell death leads to the features of hereditary fructose intolerance. (medlineplus.gov)
The biochemical basis of hereditary fructose intolerance. (medlineplus.gov)
Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (medlineplus.gov)
Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (medlineplus.gov)
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (medscape.com)
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (medscape.com)
Coffee EM, Tolan DR. Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (medscape.com)
Tolan DR. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (medscape.com)
Mass RE, Smith WR, Walsh JR. The association of hereditary fructose intolerance and renal tubular acidosis. (medscape.com)
Steinmann B, Gitzelmann R. The diagnosis of hereditary fructose intolerance. (medscape.com)
This deficiency causes the clinical syndrome of hereditary fructose intolerance. (msdmanuals.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)
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)
I am not, for example, a carrier of the gene for Hereditary Fructose Intolerance, MCAD Deficiency, Rhizomelic Chondrodysplasia Punctata Type 1, Usher Syndrome Type 1F, or Dihydrolipoamide Dehydrogenase Deficiency. (ingatellsall.com)
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. (bvsalud.org)
Estimation of hereditary fructose intolerance prevalence in the Chinese population. (cdc.gov)

Carbohydrate intolerances with early onset and genetic cause include congenital sucrase-isomaltase deficiency (CSID), glucose-galactose malabsorption (GGM) and congenital lactase deficiency (CLD). (blueprintgenetics.com)
Lactose intolerance in adulthood is very common and is the result of a genetically programmed progressive loss of the activity of the small intestinal enzyme lactase. (medscape.com)
Milk intolerance is more frequently due to milk-protein allergy than primary lactase deficiency. (medscape.com)
Although premature infants have partial lactase deficiency because of intestinal immaturity, enzyme expression can be induced by lactose ingestion. (medscape.com)
Congenital lactase deficiency is an extremely rare autosomal recessive disorder associated with a complete absence of lactase expression. (medscape.com)
Childhood-onset and adult-onset lactase deficiency are extremely common and are inherited in an autosomal recessive manner. (medscape.com)
Acquired lactase deficiency, which is a transient phenomenon by definition, is due to damage of the intestinal mucosa by an infectious, allergic, or inflammatory process and resolves once the disease process is corrected and healing of the intestinal mucosa restores the brush border enzymes. (medscape.com)
Symptomatic individuals represent only about 50% of lactase deficiency cases. (medscape.com)
Metabolic food reactions are due to inborn or acquired errors of metabolism of nutrients, such as in lactase deficiency, phenylketonuria and favism. (olsreview.com)
Because the drug contains sucrose, individuals with fructose or galactose intolerance, lactase deficiency or glucose-galactose malabsorption syndrome should not take it. (momenthealth.io)
Due to the presence of lactose, this drug is not recommended in patients with galactose intolerance, Lapp lactase deficiency or Lapp malabsorption of glucose and galactose (rare hereditary diseases). (bilkova-apteka.co.uk)
Lactase deficiency (LD) is the failure to express the enzyme that hydrolyses lactose into galactose and glucose in the small intestine. (bmj.com)

Although lactose is the carbohydrate base in most infant formulas, some (eg, soy formulas) contain sucrose, a fructose-glucose disaccharide that may cause symptoms. (medscape.com)
chronic growth restriction/failure to thrive) following dietary exposure to fructose, sucrose, or sorbitol. (blueprintgenetics.com)
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)
The drug contains sucrose, it is not recommended for people with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase deficiency. (theeurostore24.com)
Fructose is also one of the components in sugar (sucrose is made up of fructose and glucose), as well as high-fructose corn syrup (which is commonly used to sweeten many processed foods and beverages). (equilibriumnaturalhealth.com.au)

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)
Galactokinase deficiency is an autosomal recessive metabolic disorder caused by a deficiency in the enzyme galactokinase. (picmonic.com)
CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)

and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. (medlineplus.gov)
Aldolase B is responsible for the second step in the metabolism of fructose, which breaks down the molecule fructose-1-phosphate into other molecules called glyceraldehyde and dihydroxyacetone phosphate. (medlineplus.gov)
An inborn error of fructose metabolism. (medscape.com)
It replenishes Ca 2+ deficiency in the body, participates in phosphate-calcium metabolism, renders vitamin, anti-cancer, anti-inflammatory and anti-allergic effects. (lekarstwo.ru)
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)

The following year, researchers reported a familial incidence of the disorder in several family members, postulating that the defect was a deficiency of hepatic fructose 1-aldolase. (medscape.com)
The cause of severe hepatic dysfunction remains unknown but may be a manifestation of focal cytoplasmic degeneration and cellular fructose toxicity. (medscape.com)
An inborn defect of hepatic fructose-1-phosphate splitting aldolase. (medscape.com)
Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. (ouhsc.edu)

Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. (picmonic.com)

Deficiency of enzymes that metabolize fructose may be asymptomatic or cause hypoglycemia. (msdmanuals.com)
Previous confirmatory testing used liver biopsy or induction of hypoglycemia by fructose infusion 200 mg/kg IV. (msdmanuals.com)
The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. (ouhsc.edu)

Individuals with inherited issues like fructose intolerance, glucose-galactose malabsorption, or sucrase-isomaltase deficiency should avoid this medication. (medino.com)

On average, both African Americans and Hispanic Americans consume less than the recommended levels of dairy foods, and perceived or actual lactose intolerance can be a primary reason for limiting or avoiding dairy intake, while true lactose intolerance prevalence is not known in these populations. (medscape.com)

Fructose malabsorption and intolerance: effects of fructose with and without simultaneous glucose ingestion. (medscape.com)

The rapid early progress in the understanding of this disorder may have occurred because of the fairly dramatic and difficult-to-miss symptoms associated with fructose ingestion. (medscape.com)
Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. (medlineplus.gov)
Kim Y, Park SC, Wolf BW, Hertzler SR. Combination of erythritol and fructose increases gastrointestinal symptoms in healthy adults. (medscape.com)
Diagnosis of fructose 1-phosphate aldolase deficiency is suggested by symptoms in relation to recent fructose intake and is confirmed by DNA analysis. (msdmanuals.com)
However, symptoms of lactose intolerance rarely develop in people younger than 6 years. (medscape.com)
however, self-reported symptoms of lactose intolerance correlate with low calcium intake. (medscape.com)
Food intolerance is a detrimental reaction, often delayed, to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems, but generally refers to reactions other than food allergy. (olsreview.com)
8] Symptoms of food intolerance vary greatly, and can be mistaken for the symptoms of a food allergy. (olsreview.com)
Food intolerance symptoms usually begin about half an hour after eating or drinking the food in question, but sometimes symptoms may be delayed by up to 48 hours. (olsreview.com)
Food intolerance can present with symptoms affecting the skin, respiratory tract, gastrointestinal tract (GIT) either individually or in combination. (olsreview.com)
The word "intolerance" is used to describe symptoms caused by an enzyme deficiency or a transport defect. (alcat-europe.com)
Lactose intolerance (LI) is defined as the onset of abdominal symptoms such as abdominal pain, bloating and diarrhoea after lactose ingestion by an individual with LM. (bmj.com)
1-3 Studying the mechanisms of lactose digestion and intolerance has provided insights not only into dietary causes of functional intestinal symptoms but also into human evolution and nutrition, culture and lifestyle ( box 1 ). (bmj.com)

Reduced cleavage of F-1-P leads to its cellular accumulation and fructokinase inhibition, causing free fructose accumulation in the blood. (medscape.com)

Thus, in an infant who is homozygous for fructose 1-aldolase deficiency, fructose ingestion triggers a cascade of biochemical events that result in severe clinical disease. (medscape.com)

Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. (medlineplus.gov)
A lack of functional aldolase B results in an accumulation of fructose-1-phosphate in liver cells. (medlineplus.gov)
Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems. (wikipedia.org)

ALDOB gene mutations reduce the function of the enzyme, impairing its ability to metabolize fructose. (medlineplus.gov)

2008). Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. (cincinnatichildrens.org)

Food hypersensitivity is used to refer broadly to both food intolerances and food allergies. (olsreview.com)
Food intolerances can be classified according to their mechanism. (olsreview.com)
There are specific diagnostic tests for certain food intolerances. (olsreview.com)

Molecular analysis of the fructose transporter gene(GLUT5) in isolated fructose malabsorption. (medscape.com)
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. (cimm.be)
Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency. (cdc.gov)
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province. (cdc.gov)

Affected individuals are completely asymptomatic until they ingest fructose. (medscape.com)

and condensation of the triose phosphates, glyceraldehyde phosphate, and dihydroxyacetone phosphate to form fructose 1,6-diphosphate). (medscape.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)
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)

Deficiency of this enzyme causes marked accumulation of galactose and galactitol in the blood and urine. (picmonic.com)
The main cause is either insulin deficiency or insulin resistance, which leads to the accumulation of glucose in the blood and hence elevated blood glucose levels. (online-sciences.com)
Its clinical presentation clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, leading to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues, differs Three forms of the disease exist: infantile-onset, late-onset juvenile and adult onset. (medscape.com)

6 Food hypersensitivity can be caused by pharmacologically active constituents (like caffeine in coffee) and common enzyme deficiencies (like lactose and fructose intolerance). (cellhealthnews.com)

This deficiency causes benign elevation of blood and urine fructose levels (benign fructosuria). (msdmanuals.com)

Alternatively secondary fructose malabsorption occurs when people are lacking a fructose transporter (known as GLUT5). (equilibriumnaturalhealth.com.au)
GSD type Id is deficiency in a transporter that translocates free glucose molecules from microsomes into the cytosol. (medscape.com)

Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). (wikipedia.org)
GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. (medscape.com)

Clinical intolerance to fructose was initially described in 1956. (medscape.com)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. (cimm.be)
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. (cdc.gov)

In gluconeogenesis, aldolase catalyzes the reduction of phosphoenolpyruvate to fructose 1,6-bisphosphate. (medscape.com)

Elimination diets are useful to assist in the diagnosis of food intolerance. (olsreview.com)

Thus, homozygous neonates remain clinically well until confronted with dietary sources of fructose. (medscape.com)
Tsampalieros A, Beauchamp J, Boland M, Mack DR. Dietary fructose intolerance in children and adolescents. (medscape.com)
Developmental changes and fructose absoprtion in children: effect on malabsorption testing and dietary management. (medscape.com)

Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population. (cdc.gov)

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients. (cimm.be)

In glycolysis, aldolase catalyzes fructose 1,6-bisphosphate to phosphoenolpyruvate through an oxidative reaction. (medscape.com)

Timing of fructose intake: an important regulator of adiposity. (medscape.com)
This dosage form provides an adequate intake of calcium in the body in the form of a tasty drink and is designed to prevent and treat acute and chronic calcium deficiency in the body, as well as to treat various types of metabolic disorders in bone tissue. (lekarstwo.ru)
however, previous data on CDT and fructose intake correlation are inconsistent. (bvsalud.org)

GLUT5 carries fructose through the cells in the small intestines. (equilibriumnaturalhealth.com.au)

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)
Although transient lactose intolerance may occur during acute gastroenteritis and as part of any process that leads to reduction of the small intestinal absorptive surface (such as untreated celiac disease ), it is rarely clinically significant and, when present, can be easily treated with a short course of a lactose-free diet. (medscape.com)
Food intolerance is more chronic, less acute, less obvious in its presentation, and often more difficult to diagnose than a food allergy. (olsreview.com)
Acute gastroenteritis - an infection in the gut may be behind the start of fructose malabsorption, with and without the use of anti-biotics. (equilibriumnaturalhealth.com.au)

Fructose intolerance in children presenting with abdominal pain. (medscape.com)
Fructose intolerance/malabsorption and recurrent abdominal pain in children. (medscape.com)

Infants with galactokinase deficiency may present with a failure to develop a social smile due to infantile cataracts. (picmonic.com)

In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. (medlineplus.gov)
It may be a result of an abnormality in the body's ability to absorb nutrients, as occurs in fructose malabsorption. (olsreview.com)
If you suffer from fructose malabsorption (aka fructose intolerance) your digestive system doesn't absorb fructose properly. (equilibriumnaturalhealth.com.au)

The molecular bases of lactose intolerance have been reviewed. (medscape.com)
1996). Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (cincinnatichildrens.org)

Addressing this and vitamin deficiencies through blood tests, I feel so much better and it has made a huge difference to my life. (praxis-lemm.de)

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy. (cdc.gov)

In the intervals between episodes, individuals with the classical adult CPT II deficiency appear healthy. (cincinnatichildrens.org)

Diseases11

Chemicals and Drugs4

Health Care2

Geographicals1

Hereditary fructose in23

Lactase12

Sucrose5

Autosomal4

Metabolism7

Hepatic4

Galactosemia1

Hypoglycemia3

Sucrase-isomaltase1

Prevalence1

Malabsorption and intolerance1

Symptoms13

Fructokinase1

Ingestion1

Liver3

ALDOB1

Mutations1

Food intolerances3

Gene4

Ingest fructose1

Dihydroxyacetone phosphate3

Accumulation3

Enzyme Deficiencies1

Blood and urine1

Transporter2

Glycogen2

Clinical3

Gluconeogenesis1

Diagnosis1

Dietary3

Genetic1

Urine1

Glycolysis1

Intake3

GLUT51

Acute4

Abdominal2

Galactokinase1

Absorb3

Molecular2

Vitamin1

Incidence1

Individuals1