{"Name":"Hyper-beta-alaninemia","DiseaseID__c":"GARD:0010267","id":10267,"encodedName":"hyper-beta-alaninemia","IsDeleted":false,"Disease_Name_Full__c":"Hyper-beta-alaninemia","Xref_IDs__c":"2359002; C0268630; C562684; MEDGEN:75702; MONDO:0009378; OMIM:237400; ORPHA:309147","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009378","Disease_Description__c":"Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.","GARD_Name__c":"Hyper-beta-alaninemia","GARD_Synonym__c":"hyperalaninemia; increased blood alanine; increased serum alanine","Curated_Disease_Description_Source__c":"GARD:0010267","Curated_Disease_Description__c":"Hyperbetaalaninemia is a very rare metabolic condition. Hyperbetaalaninemia refers to the build-up of protein building blocks, called beta amino acids, in the body. The excess beta amino acids are neurotoxic to the body. Signs and symptoms of Hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy. Hyperbetaalaninemia is thought to be due to a loss of a functional form of the enzyme, beta-alanine-alpha-ketoglutarate transaminase.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:309147","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009378","ORPHANET_ID__c":"ORPHA:309147","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiper-beta-alaninemia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiper-beta-alaninemia","Spanish_GARD_Synonym__c":"hiperalaninemia","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":"Hyperbetaalaninemia is a very rare metabolic condition. Hyperbetaalaninemia refers to the build-up of protein building blocks, called beta amino acids, in the body. The excess beta amino acids are neurotoxic to the body. Signs and symptoms of Hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy. Hyperbetaalaninemia is thought to be due to a loss of a functional form of the enzyme, beta-alanine-alpha-ketoglutarate transaminase.","Curated_Disease_Description_Source__c":"GARD:0010267","GARD_Synonym__c":"hyperalaninemia; increased blood alanine; increased serum alanine","Name":"Hyper-beta-alaninemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:309147"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268630"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75702","Source__c":"C0268630","Xref__c":"MEDGEN:75702"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562684","Source__c":"MONDO:0009378","Xref__c":"C562684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2359002","Source__c":"C0268630; MONDO:0009378","Xref__c":"2359002"},{"URL__c":"https://www.omim.org/entry/237400","Source__c":"C0268630; MONDO:0009378; ORPHA:309147","Xref__c":"OMIM:237400"},{"URL__c":"https://www.orpha.net/en/disease/detail/309147","Source__c":"C0268630; MONDO:0009378; ORPHA:309147","Xref__c":"ORPHA:309147"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268630","Source__c":"C0268630","Xref__c":"C0268630"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009378","Source__c":"GARD:0010267","Xref__c":"MONDO:0009378"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003348","Source__c":"C0268630","Xref__c":"HP:0003348"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["hyperalaninemia"," increased blood alanine"," increased serum alanine"]}