{"Name":"Essential fructosuria","DiseaseID__c":"GARD:0006471","id":6471,"encodedName":"essential-fructosuria","IsDeleted":false,"Disease_Name_Full__c":"Essential fructosuria","Xref_IDs__c":"40278002; C0268160; C538068; DOID:0111680; E74.11; MEDGEN:78645; MONDO:0009252; OMIM:229800; ORPHA:2056","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009252","Disease_Description__c":"Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.","GARD_Name__c":"Essential fructosuria","GARD_Synonym__c":"benign fructosemia; deficiency of fructokinase; deficiency of ketohexokinase; ef - essential fructosemia; essential benign fructosuria; essential fructosemia; fructokinase deficiency; fructosuria; fructosuria, essential; hepatic fructokinase deficiency; ketohexokinase deficiency","Curated_Disease_Description_Source__c":"ORPHA:2056","Curated_Disease_Description__c":"Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2056","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009252","ORPHANET_ID__c":"ORPHA:2056","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fructosuria esencial","Spanish_Description_Source__c":"ORPHA:2056","Spanish_Description__c":"Es un trastorno del metabolismo de la fructosa poco frecuente y de caracter autosómico recesivo, producido por una actividad deficiente de la enzima fructoquinasa. Está caracterizada por fructosemia elevada y fructosuria después de la ingestión de fructosa y azúcares relacionados (sacarosa, sorbitol). Este trastorno es clínicamente asintomático y benigno. No está indicada la restricción dietética.","Spanish_Disease_Name__c":"fructosuria esencial","Spanish_GARD_Synonym__c":null,"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":"Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.","Curated_Disease_Description_Source__c":"ORPHA:2056","GARD_Synonym__c":"benign fructosemia; deficiency of fructokinase; deficiency of ketohexokinase; ef - essential fructosemia; essential benign fructosuria; essential fructosemia; fructokinase deficiency; fructosuria; fructosuria, essential; hepatic fructokinase deficiency; ketohexokinase deficiency","Name":"Essential fructosuria","estimateUsa":""}],"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":"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:2056"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268160","Source__c":"C0268160","Xref__c":"C0268160"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E74.11","Source__c":"MONDO:0009252","Xref__c":"E74.11"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78645","Source__c":"C0268160","Xref__c":"MEDGEN:78645"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538068","Source__c":"MONDO:0009252","Xref__c":"C538068"},{"URL__c":"https://www.orpha.net/en/disease/detail/2056","Source__c":"C0268160; MONDO:0009252; ORPHA:2056","Xref__c":"ORPHA:2056"},{"URL__c":"https://www.omim.org/entry/229800","Source__c":"C0268160; MONDO:0009252; ORPHA:2056","Xref__c":"OMIM:229800"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111680","Source__c":"MONDO:0009252","Xref__c":"DOID:0111680"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40278002","Source__c":"C0268160; MONDO:0009252","Xref__c":"40278002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009252","Source__c":"GARD:0006471","Xref__c":"MONDO:0009252"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124300009","Source__c":"C0268160","Xref__c":"124300009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24338009","Source__c":"C0268160","Xref__c":"24338009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124299001","Source__c":"C0268160","Xref__c":"124299001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KHK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An impairment of a fructose metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011033","HPO_Name__c":"Impairment of fructose metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030272","HPO_Synonym__c":"Abnormal erythrocyte enzyme level","HPO_Name__c":"Abnormal erythrocyte enzyme concentration or activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of glycolipid metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010969","HPO_Name__c":"Abnormality of glycolipid metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2056","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of a carbohydrate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031979","HPO_Name__c":"Abnormal urine carbohydrate level","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["benign fructosemia"," deficiency of fructokinase"," deficiency of ketohexokinase"," ef - essential fructosemia"," essential benign fructosuria"," essential fructosemia"," fructokinase deficiency"," fructosuria"," fructosuria, essential"," hepatic fructokinase deficiency"," ketohexokinase deficiency"]}