Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period
Early diagnosis and initiation of supportvive treatment with sodium bicarbonate, vitamin C, and vitamin E are esential for survival in severe GSSD. Dilated cardiomyopathy may represent a new complication of disease, highlighting the need for early cardiac monitoring.
Authors
- Ferid Aliyev (ORCID: https://orcid.org/0009-0000-4315-0103)
- Pelin Özlem Şimşek‐Kiper (ORCID: https://orcid.org/0000-0001-7244-7766)
- Erdem Fadıloğlu (ORCID: https://orcid.org/0000-0001-7953-2517)
- Şule Yiğit (ORCID: https://orcid.org/0000-0002-8755-0384)
- Hayrettin Hakan Aykan (ORCID: https://orcid.org/0000-0001-5136-3977)
- İbrahim Öncel (ORCID: https://orcid.org/0000-0002-0710-7818)
- Ali Dinç Bozat (ORCID: https://orcid.org/0000-0003-0342-7109)
- Yılmaz Yıldız (ORCID: https://orcid.org/0000-0001-9076-1388)
- Kısmet Çıkı (ORCID: https://orcid.org/0000-0002-6800-8848)
- Gizem Ürel Demir (ORCID: https://orcid.org/0000-0002-9928-3236)
- Elif Yücel
- Aysegul Demirsu (ORCID: https://orcid.org/0009-0005-7633-7886)
Institutions
- Hacettepe University Hospital (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-11-08
- DOI
- https://doi.org/10.1515/jpem-2025-0459
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00