{"orpha":2066,"name":"Gamma-aminobutyric acid transaminase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GABA transaminase deficiency"],"definition":"A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2066/","orphanet_url":"https://www.orpha.net/en/disease/detail/2066","names":{"fr":{"name":"Déficit en transaminase de l'acide gamma-aminobutyrique","synonyms":["Déficit en GABA transaminase"],"definition":"Trouble du métabolisme des transaminases de l'acide gamma-aminobutyrique (GABA-T pour gamma-aminobutyric acid transaminase) extrêmement rare, caractérisé par une encéphalopathie épileptique néonatale-infantile sévère (se manifestant par des crises épileptiques, une hypotonie, une hyperréflexie et un retard de développement) et une accélération de la croissance."},"de":{"name":"Gamma-Aminobuttersäure-Transaminase-Mangel","synonyms":["GABA-Transaminase-Mangel"],"definition":"Der Gamma-Aminobuttersäure-Transaminase (GABA-T)-Mangel ist ein angeborener Defekt im Abbau der GABA. Charakteristische Merkmale umfassen eine schwere epileptische Enzephalopathie im Neugeborenen- und Kleinkindalter, die sich durch Krampfanfälle, Hypotonie, Hyperreflexie und Entwicklungsverzögerung manifestiert, sowie ein beschleunigtes Wachstum."},"es":{"name":"Deficiencia de ácido gamma aminobutírico transaminasa","synonyms":["Deficiencia de GABA transaminasa"],"definition":"La deficiencia de ácido gamma-aminobutírico transaminasa (GABA-T) es un trastorno extremamente raro del metabolismo de GABA caracterizado por una encefalopatía epiléptica neonatal-infantil grave (que se manifiesta con síntomas tales como convulsiones, hipotonía, hiperreflexia y retraso del desarrollo) y una aceleración del crecimiento."},"it":{"name":"Deficit di acido gamma-aminobutirrico transaminasi","synonyms":["Deficit di GABA transaminasi"],"definition":"Il deficit della transaminasi dell'acido gamma-aminobutirrico (GABA-T) è una malattia molto rara del metabolismo del GABA, caratterizzata da encefalopatia epilettica neonatale-infantile grave (che esordisce con convulsioni, ipotonia, iperreflessia e ritardo dello sviluppo) ed accelerazione della crescita."},"nl":{"name":"Deficiëntie van gamma-aminoboterzuurtransaminase","synonyms":["Deficiëntie van GABA-transaminase"],"definition":"Gamma-aminoboterzuurtransaminase (GABA-T)-deficiëntie is een uiterst zeldzame stoornis van het GABA-metabolisme die gekarakteriseerd wordt door een ernstige neonatale-infantiele epileptische encefalopathie (die zich manifesteert met symptomen zoals insulten, hypotonie, hyperreflexie en ontwikkelingsachterstand) en versnelde groei."},"pt":{"name":"Deficiência de ácido gama-aminobutírico transaminase","synonyms":["Deficiência de GABA transaminase"]},"pl":{"name":"Niedobór transaminazy kwasu gamma-aminomasłowego","synonyms":["Niedobór transaminazy GABA"]},"cs":{"name":"Deficit transaminázy gamma-aminobutyrátové kyseliny","synonyms":["Deficit GABA transaminázy","Deficit GABA-T"]},"uk":{"name":"Дефіцит трансамінази гамма-аміномасляної кислоти","synonyms":["Дефіцит GABA-трансамінази"],"definition":"A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."},"zh":{"name":"γ-氨基丁酸转氨酶缺乏","synonyms":["γ-氨基丁酸转氨酶缺乏"]},"tr":{"name":"Gama-aminobütirik asit transaminaz eksikliği","synonyms":["GABA transaminaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613163","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1657261411"},{"source":"MONDO","code":"0013166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342708","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"194","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308407,"name":"Disorder of beta and omega amino acid metabolism","classifications":[150,156]},{"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]}],"children":[],"genes":[{"symbol":"ABAT","name":"4-aminobutyrate aminotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9746906[PMID]_10407778[PMID]","hgnc":"23","ensembl":"ENSG00000183044","omim":"137150","loci":["16p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25738457[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25738457[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-06-11","source":"33768830[PMID]_30644311[PMID]_28411234[PMID]_27376954[PMID]","terms":[{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032531","label":"Elevated CSF gamma-aminobutyric acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410053","label":"Elevated circulating gamma-aminobutyric acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500253","label":"Increased level of gamma-aminobutyric acid in urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025430","label":"High-pitched cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null}]}}