{"Name":"Long chain acyl-CoA dehydrogenase deficiency","DiseaseID__c":"GARD:0009700","id":9700,"encodedName":"long-chain-acyl-coa-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Long chain acyl-CoA dehydrogenase deficiency","Xref_IDs__c":"237996001; C0220711; C535690; C84537; MEDGEN:65087; MONDO:0020531","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020531","Disease_Description__c":"A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.","GARD_Name__c":"Long chain acyl-CoA dehydrogenase deficiency","GARD_Synonym__c":"acyl-coa dehydrogenase, long-chain deficiency; inborn error of long-chain-acyl-coa dehydrogenase activity; inborn long-chain-acyl-coa dehydrogenase activity disorder; lcad; lcad - long chain acyl-coa dehydrogenase deficiency; lcad deficiency; long chain acyl-coenzyme a dehydrogenase deficiency; long-chain acyl-coa dehydrogenase deficiency; long-chain acyl-coenzyme a dehydrogenase deficiency; rare inborn error of long-chain-acyl-coa dehydrogenase activity","Curated_Disease_Description_Source__c":"MONDO:0020531","Curated_Disease_Description__c":"A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020531","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.","Curated_Disease_Description_Source__c":"MONDO:0020531","GARD_Synonym__c":"acyl-coa dehydrogenase, long-chain deficiency; inborn error of long-chain-acyl-coa dehydrogenase activity; inborn long-chain-acyl-coa dehydrogenase activity disorder; lcad; lcad - long chain acyl-coa dehydrogenase deficiency; lcad deficiency; long chain acyl-coenzyme a dehydrogenase deficiency; long-chain acyl-coa dehydrogenase deficiency; long-chain acyl-coenzyme a dehydrogenase deficiency; rare inborn error of long-chain-acyl-coa dehydrogenase activity","Name":"Long chain acyl-CoA dehydrogenase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220711"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220711","Source__c":"C0220711","Xref__c":"C0220711"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84537","Source__c":"C0220711; MONDO:0020531","Xref__c":"C84537"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237996001","Source__c":"C0220711; MONDO:0020531","Xref__c":"237996001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65087","Source__c":"C0220711","Xref__c":"MEDGEN:65087"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535690","Source__c":"MONDO:0020531","Xref__c":"C535690"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020531","Source__c":"GARD:0009700","Xref__c":"MONDO:0020531"}],"tags":{},"synonyms":["acyl-coa dehydrogenase, long-chain deficiency"," inborn error of long-chain-acyl-coa dehydrogenase activity"," inborn long-chain-acyl-coa dehydrogenase activity disorder"," lcad"," lcad - long chain acyl-coa dehydrogenase deficiency"," lcad deficiency"," long chain acyl-coenzyme a dehydrogenase deficiency"," long-chain acyl-coa dehydrogenase deficiency"," long-chain acyl-coenzyme a dehydrogenase deficiency"," rare inborn error of long-chain-acyl-coa dehydrogenase activity"]}