{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-225689/","orphanet_url":"https://www.orpha.net/en/disease/detail/225689","names":{"fr":{"name":"Anomalie du métabolisme des acides aminés ou des protéines avec épilepsie"},"de":{"name":"Aminosäure/Protein-Stoffwechselstörung mit Epilepsie"},"es":{"name":"Anomalía del metabolismo de los aminoácidos o de las proteínas con epilepsia"},"it":{"name":"Malattia del metabolismo delle proteine o degli aminoacidi associata a epilessia"},"nl":{"name":"Aminozuur- of eiwitstofwisselingsziekte met epilepsie"},"pt":{"name":"Doença do metabolismo dos aminoácidos ou de proteínas com epilepsia"},"pl":{"name":"Choroba metabolizmu aminokwasów lub białek z padaczką"},"cs":{"name":"Porucha metabolismu aminokyselin nebo proteinů s epilepsií"},"uk":{"name":"Захворювання амінокислотного або білкового обміну з епілепсією"},"zh":{"name":"氨基酸或蛋白质代谢疾病伴癫痫"},"tr":{"name":"Epilepsi ile seyreden amino asit veya protein metabolizması hastalığı"}},"xrefs":[{"source":"MONDO","code":"16399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680894","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166481,"name":"Metabolic diseases with epilepsy","classifications":[156,181]}],"children":[{"orpha":19,"name":"2-hydroxyglutaric aciduria","type":"Clinical group"},{"orpha":79157,"name":"2-methylbutyryl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":505216,"name":"3-methylglutaconic aciduria type 9","type":"Disease"},{"orpha":308410,"name":"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency","type":"Disease"},{"orpha":141,"name":"Canavan disease","type":"Disease"},{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","type":"Disease"},{"orpha":407,"name":"Glycine encephalopathy","type":"Disease"},{"orpha":394,"name":"Homocystinuria due to cystathionine beta-synthase deficiency","type":"Disease"},{"orpha":309147,"name":"Hyper-beta-alaninemia","type":"Disease"},{"orpha":419,"name":"Hyperprolinemia type 1","type":"Disease"},{"orpha":79101,"name":"Hyperprolinemia type 2","type":"Disease"},{"orpha":557064,"name":"Neonatal epileptic encephalopathy due to glutaminase deficiency","type":"Disease"},{"orpha":716,"name":"Phenylketonuria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}