{"Name":"Disorder of the urea cycle metabolism","DiseaseID__c":"GARD:0007837","id":7837,"encodedName":"disorder-of-the-urea-cycle-metabolism","IsDeleted":false,"Disease_Name_Full__c":"Disorder of the urea cycle metabolism","Xref_IDs__c":"36444000; C0154246; C84785; D056806; DOID:9267; MEDGEN:57586; MONDO:0004739; ORPHA:79167","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0004739","Disease_Description__c":"A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.","GARD_Name__c":"Disorder of the urea cycle metabolism","GARD_Synonym__c":"disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia; disorder of urea cycle; disorder of urea cycle metabolism; disorder of urea cycle metabolism and ammonia detoxification; inborn disorder of urea cycle metabolism and ammonia detoxification; inborn urea cycle disorder; urea cycle defect; urea cycle disorder; urea cycle disorders; urea cycle metabolism disorder","Curated_Disease_Description_Source__c":"GARD:0007837","Curated_Disease_Description__c":"Disorder of urea cycle metabolism and ammonia detoxification is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In Disorder of urea cycle metabolism and ammonia detoxification, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The severity correlates with the amount of urea cycle enzyme function.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79167","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0004739","ORPHANET_ID__c":"ORPHA:79167","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastornos del metabolismo del ciclo de la urea y de la detoxificación del amonio","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trastornos del metabolismo del ciclo de la urea y de la detoxificación del amonio","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":"Disorder of urea cycle metabolism and ammonia detoxification is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In Disorder of urea cycle metabolism and ammonia detoxification, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The severity correlates with the amount of urea cycle enzyme function.","Curated_Disease_Description_Source__c":"GARD:0007837","GARD_Synonym__c":"disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia; disorder of urea cycle; disorder of urea cycle metabolism; disorder of urea cycle metabolism and ammonia detoxification; inborn disorder of urea cycle metabolism and ammonia detoxification; inborn urea cycle disorder; urea cycle defect; urea cycle disorder; urea cycle disorders; urea cycle metabolism disorder","Name":"Disorder of the urea cycle metabolism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"flok","Website__c":"https://flok.org/"},{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0154246","Source__c":"C0154246","Xref__c":"C0154246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57586","Source__c":"C0154246","Xref__c":"MEDGEN:57586"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9267","Source__c":"MONDO:0004739","Xref__c":"DOID:9267"},{"URL__c":"https://www.orpha.net/en/disease/detail/79167","Source__c":"C0154246; MONDO:0004739","Xref__c":"ORPHA:79167"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84785","Source__c":"C0154246; MONDO:0004739","Xref__c":"C84785"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=36444000","Source__c":"C0154246; MONDO:0004739","Xref__c":"36444000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056806","Source__c":"C0154246; MONDO:0004739","Xref__c":"D056806"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004739","Source__c":"GARD:0007837","Xref__c":"MONDO:0004739"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1217","Source__c":"Gene Review","Xref__c":"NBK1217"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics"]},"synonyms":["disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia"," disorder of urea cycle"," disorder of urea cycle metabolism"," disorder of urea cycle metabolism and ammonia detoxification"," inborn disorder of urea cycle metabolism and ammonia detoxification"," inborn urea cycle disorder"," urea cycle defect"," urea cycle disorder"," urea cycle disorders"," urea cycle metabolism disorder"]}