Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants

CONCLUSIONS: The manifestation of PAI in NNT-mutated patients is associated with a complete lack of NNT activity. Evaluation of NNT activity can be useful to characterize disease-causing NNT variants.PMID:38261461 | DOI:10.1093/ejendo/lvae011

Source: European Journal of Endocrinology - January 23, 2024 Category: Endocrinology Authors: Annelise Francisco Ayse Mine Yilmaz Goler Claudia Daniele Carvalho Navarro Asan Onder Melek Yildiz Yasemin Kendir Demirkol Betul Karademir Yilmaz Tuba Seven Menevse T ülay Güran Roger Frig ério Castilho Source Type: research