Children with a rare and often fatal genetic disorder may benefit from early treatment with vitamin B3, potentially halting serious worsening of the condition, according to a new study.
The study, led by the Murdoch Children’s Research Institute (MCRI) and the Luxembourg Center for Systems Biomedicine (LCSB), significantly expanded knowledge about NAXD deficiency and showed that high-dose niacin therapy may improve survival outcomes.
The research team identified nine additional cases of the disease, showing that the disease may present in a wider range of ways than previously recognized, including problems affecting the nervous system, heart, and prenatal development.
A healthy form of the NAXD gene allows our cells to continue making the energy our bodies need. NAXD deficiency is an extremely rare genetic disease caused by a defective gene. Researchers believe that vitamin B3 may help support energy production pathways. Although affected children are often born healthy, common childhood illnesses such as influenza and COVID-19 can cause sudden and severe complications that primarily affect the brain and heart.
Published in Journal of Inherited Metabolic Diseases, As a result of this study, nine children received a diagnosis of NAXD and were referred to MCRI for further testing. Encouragingly, the four children treated with high doses of vitamin B3 survived fevers and infections that would have otherwise caused serious health problems and death. Both children’s illness after contracting COVID-19 highlights the vulnerability of children infected with COVID-19 and the need to keep up-to-date with vaccinations.
MCRI’s Dr Nicole van Bergen said the findings could change the outlook for children living with NAXD deficiency by highlighting the importance of early detection and intervention.
The disorder is often severe, and children quickly deteriorate from even mild illness. Common infections and minor injuries can lead to life-threatening complications.
But seeing children survive the disease after treatment with high doses of vitamin B3 brings new hope to affected children and their families. Although further research is needed on long-term use of vitamin B3, this condition should now be considered as a treatable disease.
Our team is also testing whether drugs that have been shown to increase cellular energy levels can safely and effectively treat NAXD. This approach could be a lower-cost alternative to developing new drugs from scratch. ”
Dr. Nicole Van Bergen, MCRI
Importantly, this study also found that changes in different parts of the NAXD gene are associated with different forms of the disease, expanding our understanding of the clinical manifestations of NAXD deficiency.
They found that four children experienced a more typical pattern of neurological deterioration, including post-illness seizures and developmental delays. Another four developed serious cardiac complications, and one had severe prenatal neurodegeneration leading to stillbirth.
Dr. van Bergen said the findings could help clinicians diagnose children earlier, especially those with atypical neurological features or cardiac symptoms.
“Future research will focus on investigating these different disease subtypes,” she said. “However, for a disease only identified in 2019, our study represents a rapid and important advance in understanding and treating NAXD deficiency.”
Researchers from the University of Melbourne, Nikelaus Children’s Health System, Children’s Hospital of Philadelphia, Ricardo Gutierrez Hospital, Westmead Children’s Hospital, University of Sydney, Southampton University Hospitals NHS Foundation Trust, University of Southampton, Vietnam National Children’s Hospital and Queensland Children’s Hospital also contributed to the study.
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Murdoch Children’s Research Institute
Reference magazines:
Seyedkaturi, N. Others. (2026). NAXD deficiency: heterogeneous phenotype and positive response to niacin treatment. Journal of Inherited Metabolic Diseases. DOI: 10.1002/jimd.70217. https://onlinelibrary.wiley.com/doi/10.1002/jimd.70217
