{"Name":"2-hydroxyglutaric aciduria","DiseaseID__c":"GARD:0010761","id":10761,"encodedName":"2-hydroxyglutaric-aciduria","IsDeleted":false,"Disease_Name_Full__c":"2-hydroxyglutaric aciduria","Xref_IDs__c":"698870008; C128187; C2746066; C535306; DOID:0050573; MEDGEN:412535; MONDO:0016001; ORPHA:19","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016001","Disease_Description__c":"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.","GARD_Name__c":"2-hydroxyglutaric aciduria","GARD_Synonym__c":"2-hydroxyglutaric acidemia; d2l2ad","Curated_Disease_Description_Source__c":"GARD:0010761","Curated_Disease_Description__c":"2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I. L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood. Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:19","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016001","ORPHANET_ID__c":"ORPHA:19","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria 2-hidroxiglutárica","Spanish_Description_Source__c":"ORPHA:19","Spanish_Description__c":"La aciduria 2-hidroxiglutárica es un grupo de enfermedades neurometabólicas con un amplio espectro clínico que abarca desde cuadros neonatales graves a formas progresivas, y casos asintomáticos, caracterizadas bioquimicamente por niveles elevados de ácido 2-hidroxiglutárico en plasma, líquido cefalorraquídeo y orina.","Spanish_Disease_Name__c":"aciduria 2-hidroxiglutárica","Spanish_GARD_Synonym__c":"acidemia 2-hidroxiglutárica","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":"2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I. L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood. Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.","Curated_Disease_Description_Source__c":"GARD:0010761","GARD_Synonym__c":"2-hydroxyglutaric acidemia; d2l2ad","Name":"2-hydroxyglutaric aciduria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal","Website__c":"https://www.sleimpn.org/"},{"Account_Name__c":"Amigos Metabólicos","Website__c":"http://www.amigosmetabolicos.org/"},{"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":"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":"Childhood","Provided_By__c":"ORPHA:19"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2746066"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535306","Source__c":"MONDO:0016001","Xref__c":"C535306"},{"URL__c":"https://www.orpha.net/en/disease/detail/19","Source__c":"C2746066; MONDO:0016001; ORPHA:19","Xref__c":"ORPHA:19"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050573","Source__c":"MONDO:0016001","Xref__c":"DOID:0050573"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698870008","Source__c":"C2746066; MONDO:0016001","Xref__c":"698870008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128187","Source__c":"C2746066; MONDO:0016001","Xref__c":"C128187"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412535","Source__c":"C2746066","Xref__c":"MEDGEN:412535"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2746066","Source__c":"C2746066","Xref__c":"C2746066"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016001","Source__c":"GARD:0010761","Xref__c":"MONDO:0016001"},{"URL__c":"https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria","Source__c":"GARD:0010761","Xref__c":"https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["2-hydroxyglutaric acidemia"," d2l2ad"],"spanishId":12699,"spanishName":"aciduria-2-hidroxiglutarica"}