{"orpha":33572,"name":"5-oxoprolinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oxoprolinuria due to oxoprolinase deficiency"],"definition":"A very heterogeneous condition characterized by 5-oxoprolinuria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33572/","orphanet_url":"https://www.orpha.net/en/disease/detail/33572","names":{"fr":{"name":"Déficit en 5-oxoprolinase","synonyms":["Oxoprolinurie par déficit en oxoprolinase"],"definition":"Le déficit en 5-oxoprolinase est une maladie cliniquement hétérogène, caractérisée par une 5-oxoprolinurie."},"de":{"name":"5-Oxoprolinase-Mangel","synonyms":["Oxoprolinurie durch Oxoprolinase-Mangel"]},"es":{"name":"Deficiencia de 5-oxoprolinasa","synonyms":["Oxoprolinuria por deficiencia de oxoprolinasa"],"definition":"Es una condición muy heterogénea caracterizada por 5-oxoprolinuria."},"it":{"name":"Deficit di 5-oxoprolinasi","synonyms":["Oxoprolinuria da deficit di oxoprolinasi"]},"nl":{"name":"Deficiëntie van 5-oxoprolinase","synonyms":["Oxoprolinurie door deficiëntie van oxoprolinase"],"definition":"Een zeer heterogene aandoening, gekenmerkt door 5-oxoprolinurie."},"pt":{"name":"Deficiência de 5-oxoprolinase","definition":"Condição muito heterogénea caracterizada por 5-oxoprolinúria."},"pl":{"name":"Niedobór 5-oligoprolinazy","synonyms":["Oksoprolinuria spowodowana niedoborem oksoprolinazy"]},"cs":{"name":"Deficit 5-oxoprolinázy","synonyms":["Oxoprolinurie způsobená deficitem oxoprolinázy"]},"uk":{"name":"Дефіцит 5-оксопролінази","synonyms":["Оксопролінурія внаслідок дефіциту оксопролінази"],"definition":"A very heterogeneous condition characterized by 5-oxoprolinuria."},"zh":{"name":"5-氧脯氨酸酶缺乏","synonyms":["氧脯氨酸酶缺乏所致氧脯氨酸尿症"]},"tr":{"name":"5-oksoprolinaz eksikliği","synonyms":["Oksoprolinaz eksikliğine bağlı oksoprolinüri"]}},"xrefs":[{"source":"OMIM","code":"260005","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":"589223356"},{"source":"MONDO","code":"0009825","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535322","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5681","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]}],"children":[],"genes":[{"symbol":"OPLAH","name":"5-oxoprolinase, ATP-hydrolysing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21651516[PMID]_27477828[PMID]","hgnc":"8149","ensembl":"ENSG00000178814","omim":"614243","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2025-07-10","source":"25851806[PMID]_27477828[PMID]_39129838[PMID]_17397529[PMID]","terms":[{"hpo":"HP:0410132","label":"Increased level of L-pyroglutamic acid in urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040142","label":"Reduced circulating 5-oxoprolinase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005490","label":"Postnatal macrocephaly","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}]}}