{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T18:42:54Z","timestamp":1792608174433,"version":"4.5.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0515_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Sepiapterin reductase deficiency (SRD) is a rare dopa-sensitive neurotransmitter disorder caused by autosomal recessive mutations in the sepiapterin reductase gene. The triad of paroxysmal stiffening, oculogyric crises, and hypotonia are highly suggestive in some patients. However, in other patients, the clinical picture may be nonspecific and remain under-recognized and misdiagnosed as cerebral palsy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0515_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a nine-month-old boy who initially presented with hypotonia and developmental delay, diagnosed as vitamin B12 deficiency. Upon he did not respond to vitamin replacement treatment, he was diagnosed with SRD by whole-exome sequencing (WES). The boy improved dramatically under treatment with L-dopa, 5-hydroxytryptophan and BH4.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0515_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We aim to emphasize that SRD can present with nonspecific symptoms, leading to a diagnostic delay for this rare but treatable disease. Moreover, our case is the first to demonstrate the clinical benefit of BH4 add-on treatment. Early intervention is crucial for good outcome and neurodevelopment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0515","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T03:40:37Z","timestamp":1735616437000},"page":"196-200","source":"Crossref","is-referenced-by-count":2,"title":["Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6400-2775","authenticated-orcid":false,"given":"\u0130smail Hakk\u0131","family":"Akbeyaz","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics , Marmara University , \u0130stanbul , T\u00fcrkiye"},{"name":"Marmara University Pendik Education and Research Hospital \u0130stanbul , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3035-7433","authenticated-orcid":false,"given":"Olcay","family":"\u00dcnver","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics , Marmara University , \u0130stanbul , T\u00fcrkiye"},{"name":"Marmara University Pendik Education and Research Hospital \u0130stanbul , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4582-5121","authenticated-orcid":false,"given":"G\u00fclten","family":"\u00d6zt\u00fcrk","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics , Marmara University , \u0130stanbul , T\u00fcrkiye"},{"name":"Marmara University Pendik Education and Research Hospital \u0130stanbul , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7146-0248","authenticated-orcid":false,"given":"Burcu \u00d6zt\u00fcrk","family":"Hi\u015fmi","sequence":"additional","affiliation":[{"name":"Marmara University Pendik Education and Research Hospital \u0130stanbul , \u0130stanbul , T\u00fcrkiye"},{"name":"Division of Pediatric Metabolic Diseases, Department of Pediatrics , Marmara University , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7966-5746","authenticated-orcid":false,"given":"Akif","family":"Ayaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Medipol University , \u0130stanbul , T\u00fcrkiye"},{"name":"Medipol University Mega Hospital Ba\u011fc\u0131lar , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1513-6149","authenticated-orcid":false,"given":"K\u00fcr\u015fad","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Medipol University Mega Hospital Ba\u011fc\u0131lar , \u0130stanbul , T\u00fcrkiye"},{"name":"Department of Pediatric Neurology , Medipol University , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6607-5860","authenticated-orcid":false,"given":"Dil\u015fad","family":"T\u00fcrkdo\u011fan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics , Marmara University , \u0130stanbul , T\u00fcrkiye"},{"name":"Marmara University Pendik Education and Research Hospital \u0130stanbul , \u0130stanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"key":"2025020411462959947_j_jpem-2024-0515_ref_001","doi-asserted-by":"crossref","unstructured":"Friedman, J, Roze, E, Abdenur, JE, Chang, R, Gasperini, S, Saletti, V, et al.. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 2012;71:520\u201330. https:\/\/doi.org\/10.1002\/ana.22685.","DOI":"10.1002\/ana.22685"},{"key":"2025020411462959947_j_jpem-2024-0515_ref_002","doi-asserted-by":"crossref","unstructured":"Brennenstuhl, H, Jung-Klawitter, S, Assmann, B, Opladen, T. Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics 2019;50:2\u201314. https:\/\/doi.org\/10.1055\/s-0038-1673630.","DOI":"10.1055\/s-0038-1673630"},{"key":"2025020411462959947_j_jpem-2024-0515_ref_003","doi-asserted-by":"crossref","unstructured":"Hyland, K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. 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Minerva Pediatr (Torino) 2021;73:59\u201366.","DOI":"10.23736\/S2724-5276.16.04274-X"},{"key":"2025020411462959947_j_jpem-2024-0515_ref_009","doi-asserted-by":"crossref","unstructured":"Pearson, TS, Pons, R, Ghaoui, R, Sue, CM. Genetic mimics of cerebral palsy. Mov Disord 2019;34:625\u201336. https:\/\/doi.org\/10.1002\/mds.27655.","DOI":"10.1002\/mds.27655"},{"key":"2025020411462959947_j_jpem-2024-0515_ref_010","doi-asserted-by":"crossref","unstructured":"AlSubhi, S, AlShahwan, S, AlMuhaizae, M, AlZaidan, H, Tabarki, B. Sepiapterin reductase deficiency: report of 5 new cases. 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