{"Name":"Hereditary fructosuria","DiseaseID__c":"GARD:0006622","id":6622,"encodedName":"hereditary-fructosuria","IsDeleted":false,"Disease_Name_Full__c":"Hereditary fructosuria","Xref_IDs__c":"20052008; C0016751; C84720; DOID:9869; E74.12; MEDGEN:42105; MONDO:0009249; OMIM:229600; ORPHA:469","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009249","Disease_Description__c":"Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.","GARD_Name__c":"Hereditary fructosuria","GARD_Synonym__c":"aldb - aldolase b deficiency; aldb deficiency; aldob deficiency; aldolase b deficiency; fructosaemia; fructose intolerance; fructose intolerance, hereditary; fructose malabsorption; fructose-1-phosphate aldolase deficiency; fructose-1,6-bisphosphate aldolase b deficiency; fructose-biphosphate aldolase b deficiency; fructosemia; hereditary fructose intolerance; hereditary fructose intolerance syndrome; hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia","Curated_Disease_Description_Source__c":"GARD:0006622","Curated_Disease_Description__c":"Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive). Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. 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. Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:469","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009249","ORPHANET_ID__c":"ORPHA:469","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Intolerancia hereditaria a la fructosa","Spanish_Description_Source__c":"ORPHA:469","Spanish_Description__c":"La intolerancia hereditaria a la fructosa (IHF) es un trastorno autosómico recesivo del metabolismo de la fructosa, producido por la deficiencia de la actividad fructosa 1-fosfato aldolasa hepática que conduce a trastornos gastrointestinales e hipoglucemia postprandial siguiendo la ingesta de fructosa. La IHF es una condición benigna cuando se trata, pero pone en riesgo la vida y es potencialmente fatal en ausencia de tratamiento.","Spanish_Disease_Name__c":"intolerancia hereditaria a la fructosa","Spanish_GARD_Synonym__c":"deficiencia hereditaria de fructosa-1-fosfato aldolasa; fructosemia hereditaria","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive). Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. 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. Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.","Curated_Disease_Description_Source__c":"GARD:0006622","GARD_Synonym__c":"aldb - aldolase b deficiency; aldb deficiency; aldob deficiency; aldolase b deficiency; fructosaemia; fructose intolerance; fructose intolerance, hereditary; fructose malabsorption; fructose-1-phosphate aldolase deficiency; fructose-1,6-bisphosphate aldolase b deficiency; fructose-biphosphate aldolase b deficiency; fructosemia; hereditary fructose intolerance; hereditary fructose intolerance syndrome; hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia","Name":"Hereditary fructosuria","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:469"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0016751"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006622","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK333439","Source__c":"Gene Review","Xref__c":"NBK333439"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E74.12","Source__c":"MONDO:0009249","Xref__c":"E74.12"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84720","Source__c":"C0016751; MONDO:0009249","Xref__c":"C84720"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=20052008","Source__c":"C0016751; MONDO:0009249","Xref__c":"20052008"},{"URL__c":"https://www.omim.org/entry/229600","Source__c":"C0016751; MONDO:0009249; ORPHA:469","Xref__c":"OMIM:229600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=42105","Source__c":"C0016751","Xref__c":"MEDGEN:42105"},{"URL__c":"https://www.orpha.net/en/disease/detail/469","Source__c":"C0016751; MONDO:0009249; ORPHA:469","Xref__c":"ORPHA:469"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0016751","Source__c":"C0016751","Xref__c":"C0016751"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9869","Source__c":"MONDO:0009249","Xref__c":"DOID:9869"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005633","Source__c":"C0016751","Xref__c":"D005633"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance","Source__c":"GARD:0006622","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009249","Source__c":"GARD:0006622","Xref__c":"MONDO:0009249"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005973","Source__c":"C0016751","Xref__c":"HP:0005973"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALDOB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aldob","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012545","HPO_Synonym__c":"Reduced aldolase level","HPO_Name__c":"Reduced circulating aldolase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100626","HPO_Synonym__c":"Chronic liver failure","HPO_Name__c":"Chronic hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002918","HPO_Synonym__c":"High blood magnesium levels; High blood Mg levels","HPO_Name__c":"Hypermagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intermittent episodes of abnormally increased perspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001069","HPO_Synonym__c":"Hyperhidrosis, episodic; Sporadic excessive sweating","HPO_Name__c":"Episodic hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoglycermia following a meal (or more generally, after intake of glucose).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012051","HPO_Synonym__c":"Low blood sugar after a meal; Postprandial hypoglycemia","HPO_Name__c":"Reactive hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["aldb - aldolase b deficiency"," aldb deficiency"," aldob deficiency"," aldolase b deficiency"," fructosaemia"," fructose intolerance"," fructose intolerance, hereditary"," fructose malabsorption"," fructose-1-phosphate aldolase deficiency"," fructose-1,6-bisphosphate aldolase b deficiency"," fructose-biphosphate aldolase b deficiency"," fructosemia"," hereditary fructose intolerance"," hereditary fructose intolerance syndrome"," hereditary fructose-1-phosphate aldolase deficiency"," hereditary fructosemia"]}