Transient response to high-dose niacin therapy in a patient with NAXE deficiency.

Fatema Al-AmraniKhalid Al-ThihliEiman Al-AjmiAmna Al-FutaisiFathiya Al Murshedi

Published in: JIMD reports (2024)

Despite previous positive results for niacin supplementation in patients with PEBEL-1 and PEBEL-2, this is the first report of a patient with PEBEL-1 who deteriorated to fatal outcome despite being started on the highest dose of niacin therapy reported to date.

Keyphrases

high dose
case report
stem cells
stem cell transplantation
mesenchymal stem cells
brain injury
cell therapy