{"orpha":32,"name":"Glutathione synthetase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyroglutamicaciduria"],"definition":"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-32/","orphanet_url":"https://www.orpha.net/en/disease/detail/32","names":{"fr":{"name":"Déficit en glutathion synthétase","synonyms":["Acidurie pyroglutamique"],"definition":"L'acidurie pyroglutamique est caractérisée par une anémie hémolytique, associée à une acidose métabolique et une 5-oxoprolinurie dans les formes modérées, et à une atteinte neurologique progressive et des infections bactériennes récurrentes dans les formes sévères."},"de":{"name":"Glutathionsynthetase-Mangel","synonyms":["Pyroglutaminazidurie"]},"es":{"name":"Deficiencia de glutatión sintetasa","synonyms":["Aciduria piroglutámica"],"definition":"Es un trastorno poco frecuente caracterizado por anemia hemolítica asociada a acidosis metabólica y 5-oxoprolinuria en las formas moderadas, y a síntomas neurológicos progresivos e infecciones bacterianas recurrentes en las formas más graves."},"it":{"name":"Deficit di glutatione sintetasi","synonyms":["Aciduria piroglutammica"]},"nl":{"name":"Deficiëntie van glutathionsynthetase","synonyms":["Pyroglutamaatacidurie"],"definition":"Een zeldzame aandoening, gekarakteriseerd door hemolytische anemie, geassocieerd met metabole acidose en 5-oxoprolinurie in geval van een matige vorm, en met progressieve neurologische symptomen en terugkerende bacteriële infecties bij de meest ernstige vormen."},"pt":{"name":"Deficiência de glutationa sintetase","synonyms":["Acidúria piroglutâmica"],"definition":"Doença rara caracterizada por anemia hemolítica, associada a acidose metabólica e 5-oxoprolinúria nas formas moderadas, e com sintomas neurológicos progressivos e infeções bacterianas recorrentes nas formas mais graves."},"pl":{"name":"Niedobór syntetazy glutationowej","synonyms":["Kwasica piroglutaminowa"]},"cs":{"name":"Deficit glutathion syntetázy","synonyms":["Pyroglutamová acidurie"]},"uk":{"name":"Дефіцит глутатіонсинтетази","synonyms":["Піроглутамікоцидурія"],"definition":"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms."},"zh":{"name":"谷胱甘肽合成酶缺乏症","synonyms":["焦谷氨酸尿症"]},"tr":{"name":"Glutatyon sentetaz eksikliği","synonyms":["Piroglutamikasidüri"]}},"xrefs":[{"source":"OMIM","code":"231900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"266130","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2135206332"},{"source":"MONDO","code":"0017909","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536835","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398746","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079364","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":79196,"name":"Disorder of the gamma-glutamyl cycle","classifications":[150,156]},{"orpha":98370,"name":"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies","classifications":[156,194]},{"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":[{"orpha":289846,"name":"Glutathione synthetase deficiency with 5-oxoprolinuria","type":"Clinical subtype"},{"orpha":289849,"name":"Glutathione synthetase deficiency without 5-oxoprolinuria","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GSS","name":"glutathione synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"4624","ensembl":"ENSG00000100983","omim":"601002","loci":["20q11.22"],"via":{"orpha":289846,"name":"Glutathione synthetase deficiency with 5-oxoprolinuria"}},{"symbol":"GSS","name":"glutathione synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4624","ensembl":"ENSG00000100983","omim":"601002","loci":["20q11.22"],"via":{"orpha":289849,"name":"Glutathione synthetase deficiency without 5-oxoprolinuria"}}],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"26984560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26984560[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-09","source":"17397529[PMID]_37576147[PMID]_37050856[PMID]_26669244[PMID]","terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001996","label":"Chronic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003343","label":"Glutathione synthetase deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410132","label":"Increased level of L-pyroglutamic acid in urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034738","label":"Reduced erythrocyte glutathione concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}