{"orpha":35704,"name":"L-Arginine:glycine amidinotransferase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AGAT deficiency"],"definition":"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35704/","orphanet_url":"https://www.orpha.net/en/disease/detail/35704","names":{"fr":{"name":"Déficit en l-arginine:glycine amidinotransférase","synonyms":["Déficit en AGAT"],"definition":"Type très rare de syndrome de déficit en créatine caractérisé par un retard global de développement, une déficience intellectuelle et une myopathie."},"de":{"name":"L-Arginin:Glycin-Amidinotransferase-Mangel","synonyms":["AGAT-Mangel"]},"es":{"name":"Deficiencia de L-arginina:glicina amidinotransferasa","synonyms":["Deficiencia AGAT"],"definition":"La deficiencia de L-Arginina:glicina amidinotransferasa (AGAT) es un tipo muy poco frecuente del síndrome de deficiencia de creatina caracterizado por un retraso generalizado del desarrollo, discapacidad intelectual y miopatía."},"it":{"name":"Deficit di l-Arginina:glicina amidinotransferasi","synonyms":["Deficit di AGAT"],"definition":"Il deficit di L-Arginina:glicina amidinotransferasi (AGAT) è una forma molto rara di sindrome da deficit di creatina. E' caratterizzato da ritardo dello sviluppo globale, disabilità cognitiva e miopatia."},"nl":{"name":"L-Arginine:glycine-amidinotransferasedeficiëntie","synonyms":["AGAT-deficiëntie"],"definition":"L-arginine:glycine-amidinotransferase (AGAT)-deficiëntie is een zeer zeldzaam type van creatinedeficiëntiesyndroom dat gekarakteriseerd wordt door algemene ontwikkelingsachterstand, intellectuele achterstand, en myopathie."},"pt":{"name":"Deficiência de arginina:glicina amidinotransferase"},"pl":{"name":"Niedobór amidynotransferazy L-arginina:glicyna","synonyms":["Niedobór AGAT"]},"cs":{"name":"Deficit L-arginin:glycin amidinotransferázy","synonyms":["Deficit AGAT"]},"uk":{"name":"Дефіцит L-аргініну:гліцин-амідинотрансферази","synonyms":["Дефіцит AGAT"],"definition":"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy."},"zh":{"name":"精氨酸-甘氨酸脒基转移酶缺乏","synonyms":["AGAT缺乏症"]},"tr":{"name":"L-Arjinin: glisin amidinotransferaz eksikliği","synonyms":["AGAT eksikliği"]}},"xrefs":[{"source":"OMIM","code":"612718","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1742386453"},{"source":"MONDO","code":"0012996","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675179","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10323","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79172,"name":"Creatine deficiency syndrome","classifications":[150,156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GATM","name":"glycine amidinotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301745[PMID]","hgnc":"4175","ensembl":"ENSG00000171766","omim":"602360","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"20301745[PMID]_20625172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-17","source":"26490222[PMID]_28971744[PMID]_26542286[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000572","label":"Reduced tissue arginine:glycine amidinotransferase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034597","label":"Decreased CSF creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012101","label":"Decreased serum creatinine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000748","label":"Decreased urinary creatine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000115","label":"Decreased urine creatinine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034888","label":"Decreased urine guanidinoacetic acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025051","label":"Reduced brain creatine level by MRS","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034292","label":"Reduced circulating creatine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}