{"orpha":22,"name":"Succinic semialdehyde dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["4-hydroxybutyric aciduria","Gamma-hydroxybutyric aciduria","SSADH deficiency"],"definition":"A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-22/","orphanet_url":"https://www.orpha.net/en/disease/detail/22","names":{"fr":{"name":"Déficit en succinate-semi-aldéhyde déshydrogénase","synonyms":["Acidurie 4-hydroxybutyrique","Acidurie gamma-hydroxybutyrique","Déficit en SSADH"],"definition":"Trouble rare du métabolisme de l'acide gamma-aminobutyrique (GABA) avec une présentation clinique non spécifique (allant de forme légère à sévère), les symptômes les plus fréquents étant une déficience cognitive et un déficit important du langage expressif, une hypotonie, une ataxie, une épilepsie et une dysrégulation comportementale."},"de":{"name":"Succinat-Semialdehyd-Dehydrogenase-Mangel","synonyms":["4-Hydroxybutyrazidurie","Bernsteinsäure-Semialdehyd-Dehydrogenase-Mangel","Gamma-Hydroxybutyrazidurie","SSADH-Mangel"],"definition":"Succinat-Semialdehyd-Dehydrogenase (SSADH)-Mangel ist eine seltene neurometabolische Störung des Gamma-Aminobuttersäure (GABA)-Stoffwechsels mit einer unspezifischen klinischen Präsentation (von leicht bis schwer). Die häufigsten Symptome sind kognitive Einschränkung mit ausgeprägtem Defizit der expressiven Sprache, Hypotonie, Ataxie, Epilepsie und Verhaltensstörung."},"es":{"name":"Deficiencia de semialdehído succínico deshidrogenasa","synonyms":["Aciduria 4 hidroxibutírica","Aciduria gamma-hidroxibutírica","Deficiencia de SSADH"],"definition":"Es un trastorno neurometabólico poco frecuente del metabolismo del ácido gamma-aminobutírico (GABA) con una presentación clínica no específica (que va desde leve a grave) siendo los síntomas más frecuentes la discapacidad cognitiva con un importante déficit en la expresión del lenguaje, hipotonía, ataxia, epilepsia y una desregulación conductual."},"it":{"name":"Deficit di succinico semialdeide deidrogenasi","synonyms":["Aciduria 4-idrossibutirrica","Aciduria gamma-idrossibutirrica","Deficit di SSADH"],"definition":"Il deficit di succinico semialdeide deidrogenasi (SSADH) è una malattia neurometabolica rara del metabolismo dell'acido gamma-aminobutirrico (GABA), caratterizzata da segni clinici aspecifici (lievi-gravi). I sintomi più comuni sono il deterioramento cognitivo associato ad un grave deficit del linguaggio espressivo, ipotonia, atassia, epilessia e alterazioni del comportamento."},"nl":{"name":"Succinyl-semialdehyde-dehydrogenasedeficiëntie","synonyms":["4-hydroxyboterzuuracidurie","Barnsteenzuur-semialdehyde-dehydrogenasedeficiëntie","GHB-acidurie","Gamma-hydroxyboterzuuracidurie","SSADH-deficiëntie"],"definition":"Een zeldzame neurometabole stoornis van het gamma-aminoboterzuur (GABA)-metabolisme met een niet-specifieke klinische presentatie (gaande van mild tot ernstig) en als meest voorkomende symptomen cognitieve functiestoornis met uitgesproken tekorten in expressieve taal, hypotonie, ataxie, epilepsie, en gedragsstoornissen."},"pt":{"name":"Deficiência de semialdeído succínico desidrogenase","synonyms":["Acidúria 4-hidroxibutírica"],"definition":"Uma doença neurometabólica rara do metabolismo do ácido gama-aminobutírico (GABA) com apresentação clínica inespecífica (variando de ligeira a grave), sendo os sintomas mais frequentes o compromisso cognitivo com défice proeminente na linguagem expressiva, hipotonia, ataxia, epilepsia e desregulação comportamental."},"pl":{"name":"Kwasica 4-hydroksymasłowa","synonyms":["Niedobór dehydrogenazy semialdehydu bursztynowego"],"definition":"Niedobór dehydrogenazy semialdehydu bursztynowego (Succinic semialdehyde dehydrogenase – SSADH) to rzadkie zaburzenie neurometaboliczne metabolizmu kwasu gamma-aminomasłowego (GABA) o niespecyficznym przebiegu klinicznym (od łagodnego do ciężkiego), w którym do najcięższych objawów należą zaburzenia poznawcze z wyraźnym deficytem ekspresji mowy, hipotonia, ataksja, padaczka oraz zaburzenia zachowania."},"cs":{"name":"Deficit sukcinátsemialdehyddehydrogenázy","synonyms":["4-hydroxybutyrátová acidurie","Gama-hydroxybutyrátová acidurie","Deficit SSAHD"]},"uk":{"name":"Дефіцит бурштинової напівальдегід дегідрогенази","synonyms":["4-гідроксимасляна ацидурія","Гамма-гідроксимасляна ацидурія","Дефіцит SSADH"],"definition":"A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation."},"zh":{"name":"琥珀酸半醛脱氢酶缺乏症","synonyms":["γ-羟丁酸尿症"]},"tr":{"name":"Süksinik semialdehit dehidrojenaz eksikliği","synonyms":["SSADH eksikliği","4-hidroksibütirik asidüri","Gama-hidroksibütirik asidüri"]}},"xrefs":[{"source":"OMIM","code":"271980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2031643850"},{"source":"MONDO","code":"0010083","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268631","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79175,"name":"Disorder of gamma-aminobutyric acid metabolism","classifications":[150,156]},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALDH5A1","name":"aldehyde dehydrogenase 5 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301374[PMID]","hgnc":"408","ensembl":"ENSG00000112294","omim":"610045","loci":["6p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":450.0,"area":"Worldwide","status":"Validated","source":"20301374[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"34882073[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null}]}}