{"Name":"Inherited lipoic acid biosynthesis defect","DiseaseID__c":"GARD:0012679","id":12679,"encodedName":"inherited-lipoic-acid-biosynthesis-defect","IsDeleted":false,"Disease_Name_Full__c":"Inherited lipoic acid biosynthesis defect","Xref_IDs__c":"C5680006; MEDGEN:1843250; MONDO:0018424; ORPHA:401854","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018424","Disease_Description__c":"An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.","GARD_Name__c":"Inherited lipoic acid biosynthesis defect","GARD_Synonym__c":"inborn error of lipoate biosynthetic process; inborn lipoate biosynthetic process disorder; lipoate biosynthesis defect; lipoic acid biosynthesis defect; rare inborn error of lipoate biosynthetic process","Curated_Disease_Description_Source__c":"GARD:0012679","Curated_Disease_Description__c":"Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1, LIAS, DLD) which codifiy different enzymes. LIPT1 deficiency resulted in early death in one patient and in a less severely affected individual with a Leigh-like syndrome clinical features. In DLD gene deficiency the clinical features are very varied depending on which of the affected enzymes is most rate limiting.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:401854","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018424","ORPHANET_ID__c":"ORPHA:401854","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Defecto de la biosíntesis de ácido lipoico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"defecto de la biosíntesis de ácido lipoico","Spanish_GARD_Synonym__c":"defecto de la biosíntesis de lipoato","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":"Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1, LIAS, DLD) which codifiy different enzymes. LIPT1 deficiency resulted in early death in one patient and in a less severely affected individual with a Leigh-like syndrome clinical features. In DLD gene deficiency the clinical features are very varied depending on which of the affected enzymes is most rate limiting.","Curated_Disease_Description_Source__c":"GARD:0012679","GARD_Synonym__c":"inborn error of lipoate biosynthetic process; inborn lipoate biosynthetic process disorder; lipoate biosynthesis defect; lipoic acid biosynthesis defect; rare inborn error of lipoate biosynthetic process","Name":"Inherited lipoic acid biosynthesis defect","estimateUsa":""}],"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:401854"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:401854"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680006","Source__c":"C5680006","Xref__c":"C5680006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843250","Source__c":"C5680006","Xref__c":"MEDGEN:1843250"},{"URL__c":"https://www.orpha.net/en/disease/detail/401854","Source__c":"C5680006; MONDO:0018424; ORPHA:401854","Xref__c":"ORPHA:401854"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018424","Source__c":"GARD:0012679","Xref__c":"MONDO:0018424"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["inborn error of lipoate biosynthetic process"," inborn lipoate biosynthetic process disorder"," lipoate biosynthesis defect"," lipoic acid biosynthesis defect"," rare inborn error of lipoate biosynthetic process"]}