{"orpha":2195,"name":"Dicarboxylic aminoaciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Glutamate-aspartate transport defect"],"definition":"A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2195/","orphanet_url":"https://www.orpha.net/en/disease/detail/2195","names":{"fr":{"name":"Hyperaminoacidurie dicarboxylique","synonyms":["Défaut de transport du glutamate-aspartate"],"definition":"Erreur innée du métabolisme rare, autosomique récessive, caractérisée par une excrétion urinaire accrue d'acides aminés dicarboxyliques, de glutamate et d'aspartate, qui peut être associée à des calculs rénaux et à des manifestations neuropsychiatriques."},"de":{"name":"Dicarboxyl-Hyperaminoazidurie","synonyms":["Glutamat-Aspartat-Transportdefekt"],"definition":"Ein seltener autosomal-rezessiver angeborener Stoffwechseldefekt, der durch eine erhöhte Ausscheidung von Dicarbonsäuren, Glutamat und Aspartat im Urin gekennzeichnet ist und mit Nierensteinen und neuropsychiatrischen Symptomen einhergehen kann."},"es":{"name":"Aminoaciduria dicarboxílica","synonyms":["Defecto de transporte de glutamato-aspartato"],"definition":"Es un error congénito del metabolismo autosómico recesivo y poco frecuente caracterizado por un aumento de la excreción urinaria de aminoácidos dicarboxílicos, glutamato y aspartato, que puede asociarse con cálculos renales y manifestaciones neuropsiquiátricas."},"it":{"name":"Iperaminoaciduria dicarbossilica","synonyms":["Errore nel trasporto di glutammato-aspartato"]},"nl":{"name":"Dicarboxyl-aminoacidurie","synonyms":["Glutamaat-aspartaat-transportdefect"],"definition":"Een zeldzame autosomaal recessieve aangeboren stofwisselingsziekte, gekenmerkt door verhoogde excretie van dicarboxyl-aminozuren, glutamaat en aspartaat, in urine, mogelijk geassocieerd met nierstenen en neuropsychiatrische manifestaties."},"pt":{"name":"Aminoacidúria dicarboxílica","synonyms":["Defeito no transporte de glutamato-aspartato"],"definition":"Erro inato do metabolismo raro, autossómico recessivo, caracterizado por aumento da excreção urinária de aminoácidos dicarboxílicos, glutamato e aspartato, que pode estar associado a cálculos renais e manifestações neuropsiquiátricas."},"pl":{"name":"Aminoacyduria dikarboksylowa","synonyms":["Defekt transportu glutaminianu i aspartanianu"],"definition":"Rzadka, dziedziczona autosomalnie recesywnie wrodzona wada metabolizmu charakteryzująca się zwiększonym wydalaniem z moczem aminokwasów dikarboksylowych, glutaminianu i asparaginianu, który może być powiązany z kamicą nerkową i objawami neuropsychiatrycznymi."},"cs":{"name":"Dikarboxylová aminoacidurie","synonyms":["Defekt transportu glutamát-aspartátu"]},"uk":{"name":"Дикарбоксильна аміноацидурія","synonyms":["Дефект глутамат-аспартатного транспорту"],"definition":"A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations."},"zh":{"name":"二羧基氨基酸尿症","synonyms":["谷氨酸天冬氨酸转运子缺乏"]},"tr":{"name":"Dikarboksilik aminoasidüri","synonyms":["Glutamat-aspartat taşıma defekti"]}},"xrefs":[{"source":"OMIM","code":"222730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1947265216"},{"source":"MONDO","code":"0009110","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC1A1","name":"solute carrier family 1 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21123949[PMID]","hgnc":"10939","ensembl":"ENSG00000106688","omim":"133550","loci":["9p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Specific population","status":"Validated","source":"17570073[PMID]_21123949[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.76,"area":"Specific population","status":"Validated","source":"17570073[PMID]_21123949[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-02-27","source":"21123949[PMID]_31878022[PMID]_37764806[PMID]","terms":[{"hpo":"HP:0032401","label":"Aspartic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033094","label":"Increased urine glutamate level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null}]}}