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

Annelise FranciscoAyse Mine Yilmaz GolerClaudia Daniele Carvalho NavarroAsan Onder Camas Melek Yıldız Yasemin Kendir DemirkolBetul Karademir YilmazTuba Seven Menevse Tülay Güran Roger Frigério Castilho

Published in: European journal of endocrinology (2024)

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.

Keyphrases

end stage renal disease
ejection fraction
copy number
newly diagnosed
chronic kidney disease
peritoneal dialysis
patient reported outcomes
genome wide