Vitamin B3 Treatment May Halt Severity of Rare Genetic Disease

This study suggests that high-dose vitamin B3 (niacin) could help children with NAXD deficiency, an ultra-rare genetic disorder that can cause rapid and potentially fatal deterioration. The condition results from faults in the NAXD gene, which normally helps cells produce energy. Children with the disorder may appear healthy at birth but can develop severe complications when exposed to common illnesses such as influenza or COVID-19, particularly affecting the brain and heart.

Researchers from the Murdoch Children’s Research Institute and the Luxembourg Centre for Systems Biomedicine identified nine additional cases, showing that NAXD deficiency can take several different forms. Some children developed seizures, developmental problems and other neurological symptoms after illness, while others experienced serious heart complications. One child developed severe neurological damage before birth, resulting in stillbirth. These findings may help doctors recognize the disorder earlier in children who have less typical symptoms.

Importantly, four children who received high-dose vitamin B3 survived episodes of fever or infection that might otherwise have led to severe complications or death. The researchers believe niacin may help support the cellular energy pathways affected by NAXD deficiency, although further research is needed. The findings raise the possibility that NAXD deficiency, which was only first identified in 2019, could be considered a treatable condition.

To learn about research showing that vitamin B3 lowers the risk of non-melanoma skin cancers, see this article on our website.