Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency

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dc.contributor.authorHakkı Akbeyaz, İsmail
dc.contributor.authorÜnver, Olcay
dc.contributor.authorÖztürk, Gülten
dc.contributor.authorÖztürk Hişmi, Burcu
dc.contributor.authorAyaz, Akif
dc.contributor.authorAydın, Kürşad
dc.contributor.authorTürkdoğan, Dilşad
dc.date.accessioned2026-01-14T12:36:40Z
dc.date.available2026-01-14T12:36:40Z
dc.date.issued2025
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractObjectives: 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. Case presentation: 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-hydroxy-tryptophan and BH4. Conclusions: 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.
dc.identifier.citationHakkı Akbeyaz, İ., Ünver, O., Öztürk, G., Öztürk Hişmi, B., Ayaz, A., Aydın, K. ... Türkdoğan, D. (2025). Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency. Journal of Pediatric Endocrinology and Metabolism, 38(2), 196-200. http://dx.doi.org/10.1515/jpem-2024-0515
dc.identifier.doi10.1515/jpem-2024-0515
dc.identifier.endpage200
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue2
dc.identifier.pmid39903824
dc.identifier.scopus2-s2.0-85214100025
dc.identifier.scopusqualityQ2
dc.identifier.startpage196
dc.identifier.urihttp://dx.doi.org/10.1515/jpem-2024-0515
dc.identifier.urihttps://hdl.handle.net/20.500.12511/13375
dc.identifier.volume38
dc.identifier.wosWOS:001385939100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Kürşad
dc.institutionauthorid0000-0003-1513-6149
dc.language.isoen
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBH4 Add-On Treatment
dc.subjectHypotonic Infant
dc.subjectSepiapterin Reductase Deficiency
dc.subjectVitamin B12 Deficiency
dc.titleUnclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
dc.typeArticle

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