Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
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.
Authors
- Dilşad Türkdoğan (ORCID: https://orcid.org/0000-0002-6607-5860)
- Kürşad Aydın (ORCID: https://orcid.org/0000-0003-1513-6149)
- Gülten Öztürk
- Burcu Öztürk Hişmi (ORCID: https://orcid.org/0000-0001-7146-0248)
- Olcay Ünver (ORCID: https://orcid.org/0000-0003-3035-7433)
- Akif Ayaz
- İsmail Hakkı Akbeyaz (ORCID: https://orcid.org/0000-0001-6400-2775)
Institutions
- Istanbul Medipol University (TR)
- Marmara University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2024-12-31
- DOI
- https://doi.org/10.1515/jpem-2024-0515
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00