{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:26:26Z","timestamp":1745468786178,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited condition of 5-oxoprolinuria, or pyroglutamic aciduria, is primarily caused by mutations in the genes that encode glutathione synthetase (GSS) and 5-oxoprolinase (OPLAH), which are enzymes involved in the gamma-glutamyl cycle in glutathione metabolism. We report a 3-year-old male patient with epilepsy and speech difficulty diagnosed as primary 5-oxoprolinuria due to a novel <i>OPLAH<\/i> gene mutation. <b><i>Case Presentation:<\/i><\/b> A 3-year-old boy who was delivered at full term in an uncomplicated birth to consanguineous parents presented with epilepsy at the age of 2 years. He did not speak fluently. He was using 5\u201310 words with decreased language fluency. His past medical history revealed postnatal macrocephaly, hydrocephalus, and well-controlled epilepsy with levetiracetam. Progressive cerebral atrophy, hypomyelination, ventriculomegaly, and corpus callosum hypoplasia were striking features in brain MRI. A urine sample was sent for organic acid analysis by gas chromatography-mass spectrometry (GC-MS); quantitation of 5-oxoproline by stable isotope dilution gave a value of 177.9 mmol\/mol creatinine (reference values 25.8\u201392.2). Molecular genetic analysis of the OPLAH gene revealed a novel homozygous variant (<i>OPLAH<\/i> (NM_017570.5): c.1909C&gt;T p.Arg637Trp). <b><i>Conclusion:<\/i><\/b> We conclude that inherited 5-oxoprolinase deficiency is not a benign biochemical condition, and patients with 5-oxoprolinuria should be screened for it. The nature of this inherited metabolic disorder must be determined through long-term observation. We wish to emphasize the significance of molecular genetic analysis in symptomatic patients with persistently elevated levels of 5-oxoproline in the urine, as measured by organic acid analysis. <\/jats:p>","DOI":"10.1159\/000536295","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T22:00:31Z","timestamp":1708725631000},"page":"303-310","source":"Crossref","is-referenced-by-count":1,"title":["Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?"],"prefix":"10.1159","volume":"15","author":[{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oya","family":"K\u0131reker K\u00f6yl\u00fc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysenur","family":"Engin Erdal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Y\u00fcrek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesrin","family":"Ceylan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-16"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1248\/bpb.27.288"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1590\/1414-431X20176853"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550608.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711529"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711382"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050746"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb16556.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01728.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_166"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-014-2397-0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.03.005"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.008"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb01878.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.12890\/2020_001569"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1179\/2295333714Y.0000000022"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/303\/4262316\/000536295.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/303\/4262316\/000536295.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:06:07Z","timestamp":1745424367000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,8,7]]},"published-print":{"date-parts":[[2024,8,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000536295","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2024]]}}}