{"Name":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","DiseaseID__c":"GARD:0021498","id":21498,"encodedName":"transient-neonatal-multiple-acyl-coa-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","Xref_IDs__c":"723552005; C4509950; MEDGEN:1373921; MONDO:0018014; ORPHA:329942","USA_Estimate__c":"1,000","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":"1 to 8,000","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":2,"Description_Source__c":"MONDO:0018014","Disease_Description__c":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.","GARD_Name__c":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","GARD_Synonym__c":"transient neonatal glutaric acidemia type 2; transient neonatal glutaric aciduria type 2; transient neonatal mad (multiple acyl-coenzyme a dehydrogenase) deficiency; transient neonatal mad deficiency; transient neonatal madd; transient neonatal multiple acyl-coenzyme a dehydrogenase deficiency","Curated_Disease_Description_Source__c":"ORPHA:329942","Curated_Disease_Description__c":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:329942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018014","ORPHANET_ID__c":"ORPHA:329942","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia múltiple de acil-coa deshidrogenasa neonatal transitoria","Spanish_Description_Source__c":"ORPHA:329942","Spanish_Description__c":"La deficiencia neonatal transitoria múltiple de acil CoA-deshidrogenasa es una enfermedad rara en la que un déficit de riboflavina materna provoca en el lactante manifestaciones similares a las observadas en la deficiencia múltiple de acil CoA-deshidrogenasa (MADD) (ver este término), tales como dificultad en la succión, acidosis metabólica e hipoglucemia, pero que se resuelve completamente mediante la administración oral de riboflavina. En el único caso descrito, la madre del afectado tenía haploinsuficiencia del transportador humano de la riboflavina (hRFT1).","Spanish_Disease_Name__c":"deficiencia múltiple de acil-coa deshidrogenasa neonatal transitoria","Spanish_GARD_Synonym__c":"acidemia glutárica neonatal transitoria tipo 2; aciduria glutárica neonatal transitoria tipo 2; deficiencia neonatal transitoria de mad; madd neonatal transitorio","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":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.","Curated_Disease_Description_Source__c":"ORPHA:329942","GARD_Synonym__c":"transient neonatal glutaric acidemia type 2; transient neonatal glutaric aciduria type 2; transient neonatal mad (multiple acyl-coenzyme a dehydrogenase) deficiency; transient neonatal mad deficiency; transient neonatal madd; transient neonatal multiple acyl-coenzyme a dehydrogenase deficiency","Name":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:329942"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:329942"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509950","Source__c":"C4509950","Xref__c":"C4509950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1373921","Source__c":"C4509950","Xref__c":"MEDGEN:1373921"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723552005","Source__c":"C4509950; MONDO:0018014","Xref__c":"723552005"},{"URL__c":"https://www.orpha.net/en/disease/detail/329942","Source__c":"C4509950; MONDO:0018014; ORPHA:329942","Xref__c":"ORPHA:329942"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018014","Source__c":"GARD:0021498","Xref__c":"MONDO:0018014"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["transient neonatal glutaric acidemia type 2"," transient neonatal glutaric aciduria type 2"," transient neonatal mad (multiple acyl-coenzyme a dehydrogenase) deficiency"," transient neonatal mad deficiency"," transient neonatal madd"," transient neonatal multiple acyl-coenzyme a dehydrogenase deficiency"]}