{"orpha":33573,"name":"Gamma-glutamyl transpeptidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gamma-glutamyl transferase deficiency","Glutathionuria"],"definition":"A disorder that is characterized by increased glutathione concentration in the plasma and urine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33573/","orphanet_url":"https://www.orpha.net/en/disease/detail/33573","names":{"fr":{"name":"Déficit en gamma-glutamyl transpeptidase","synonyms":["Déficit en gamma-glutamyl transférase","Glutathionurie"],"definition":"Le déficit en gamma-glutamyl transpeptidase est caractérisé par des concentrations élevées de glutathion dans le sérum et dans l'urine."},"de":{"name":"Gamma-Glutamyltranspeptidase-Mangel","synonyms":["Gamma-Glutamyltransferase-Mangel","Glutathionurie"]},"es":{"name":"Deficiencia de gamma-glutamil transpeptidasa","synonyms":["Deficiencia de gamma-glutamil transferasa","Glutationuria"],"definition":"Es un trastorno caracterizado por un aumento de la concentración de glutatión en el plasma y la orina."},"it":{"name":"Deficit di gamma-glutamil transpeptidasi","synonyms":["Glutationuria"]},"nl":{"name":"Deficiëntie van gamma-glutamyltranspeptidase","synonyms":["Deficiëntie van gamma-glutamyltransferase","Glutathionurie"],"definition":"Een aandoening, gekenmerkt door verhoogde concentratie van glutathion in plasma en urine."},"pt":{"name":"Deficiência de gama-glutamil transpeptidase","definition":"Uma perturbação caracterizada pelo aumento da concentração de glutationa no plasma e na urina."},"pl":{"name":"Niedobór gamma-glutamylotranspeptydazy","synonyms":["Glutationuria"]},"cs":{"name":"Deficit gamma-glutamyltranspeptidázy","synonyms":["Glutathionurie"]},"uk":{"name":"Дефіцит гамма-глутамілтранспептидази","synonyms":["Дефіцит гамма-глутамілтрансферази","Глутатіонурія"],"definition":"A disorder that is characterized by increased glutathione concentration in the plasma and urine."},"zh":{"name":"γ-谷氧酰转肽酶缺乏","synonyms":["γ-谷氧酰转肽酶缺乏症"]},"tr":{"name":"Gama-glutamil transpeptidaz eksikliği","synonyms":["Glutatyonüri","Gama-glutamil transferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"231950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2074850874"},{"source":"MONDO","code":"0009285","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268524","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79196,"name":"Disorder of the gamma-glutamyl cycle","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GGT1","name":"gamma-glutamyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29483667[PMID]","hgnc":"4250","ensembl":"ENSG00000100031","omim":"612346","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"15702405[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15702405[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-10","source":"17397529[PMID]_29483667[PMID]","terms":[{"hpo":"HP:0034456","label":"Elevated circulating glutathione concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034586","label":"Glutathionuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000578","label":"Reduced tissue gamma-glutamyltransferase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}