{"Name":"Multiple carboxylase deficiency","DiseaseID__c":"GARD:0003824","id":3824,"encodedName":"multiple-carboxylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Multiple carboxylase deficiency","Xref_IDs__c":"1172966001; C0026755; D009100; D81.81; D81.819; DOID:857; MEDGEN:10119; MONDO:0015454; ORPHA:148","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015454","Disease_Description__c":"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.","GARD_Name__c":"Multiple carboxylase deficiency","GARD_Synonym__c":"biotin-responsive multiple carboxylase deficiencies; mcd","Curated_Disease_Description_Source__c":"MEDGEN:C0026755","Curated_Disease_Description__c":"A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:148","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015454","ORPHANET_ID__c":"ORPHA:148","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia múltiple de carboxilasas","Spanish_Description_Source__c":"ORPHA:148","Spanish_Description__c":"Es un grupo de errores innatos del metabolismo de la biotina caracterizado por la reducción de la actividad de las enzimas dependientes de la biotina, que resulta en un amplio espectro de síntomas, incluyendo dificultad para alimentarse, dificultad respiratoria, letargia, crisis, erupción cutánea, alopecia y retraso psicomotor. Este grupo incluye la deficiencia de biotinidasa y la deficiencia de biotina holocarboxilasa sintetasa.","Spanish_Disease_Name__c":"deficiencia múltiple de carboxilasas","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":"A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.","Curated_Disease_Description_Source__c":"MEDGEN:C0026755","GARD_Synonym__c":"biotin-responsive multiple carboxylase deficiencies; mcd","Name":"Multiple carboxylase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Infancy","Provided_By__c":"ORPHA:148"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:148"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MCD"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D81.819","Source__c":"MONDO:0015454","Xref__c":"D81.819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10119","Source__c":"C0026755","Xref__c":"MEDGEN:10119"},{"URL__c":"https://www.orpha.net/en/disease/detail/148","Source__c":"C0026755; MONDO:0015454; ORPHA:148","Xref__c":"ORPHA:148"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026755","Source__c":"C0026755","Xref__c":"C0026755"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A857","Source__c":"MONDO:0015454","Xref__c":"DOID:857"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009100","Source__c":"C0026755; MONDO:0015454","Xref__c":"D009100"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D81.81","Source__c":"MONDO:0015454","Xref__c":"D81.81"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015454","Source__c":"GARD:0003824","Xref__c":"MONDO:0015454"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172966001","Source__c":"C0026755","Xref__c":"1172966001"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["biotin-responsive multiple carboxylase deficiencies"," mcd"]}