Dr Nicole Van Bergen<\/a> said the findings could change the outlook for children living with NAXD deficiency by highlighting the importance of early recognition and intervention.<\/p>\n\u201cThis disorder is often devastating, with children deteriorating rapidly after even mild illness,\u201d she said. \u201cCommon infections and minor injuries can end up in life-threatening complications.<\/p>\n
\u201cBut seeing children survive illnesses after treatment with high-dose vitamin B3 offers new hope for affected children and their families. While further research into the long-term use of vitamin B3 is needed, the condition should now be considered as a treatable disease.<\/p>\n
\u201cOur team is also testing medicines that are proven to increase cellular energy levels to see if they can also safely and effectively treat NAXD. This approach could provide a lower-cost alternative to developing a new drug from scratch.\u201d<\/p>\n
Importantly, the study also broadens our understanding of the clinical presentation of NAXD deficiency, discovering that changes in different parts of the NAXD gene were linked to distinct forms of the disease.<\/p>\n
It found four children experienced the more typical patterns of neurological deterioration, including seizures and developmental delay following illness. Another four developed serious heart complications, while one case of severe neurodegeneration before birth resulted in stillbirth.<\/p>\n
Dr Van Bergen said the findings may help clinicians diagnose children earlier, particularly those with additional, non-typical neurological traits and heart symptoms.<\/p>\n
\u201cFuture research will focus on exploring these different subtypes of disease,\u201d she said. \u201cHowever, for a disease only identified in 2019, our work represents a rapid and significant step forward in understanding and treating NAXD deficiency.\u201d<\/p>\n
Researchers from the University of Melbourne, Nickelaus Children\u2019s Health System, Children\u2019s Hospital of Philadelphia, Hospital de Ni\u00f1os Dr. Ricardo Guti\u00e9rrez, The Children’s Hospital at Westmead, University of Sydney, University Hospital Southampton NHS Foundation Trust, University of Southampton, Vietnam National Children\u2019s Hospital and the Queensland Children\u2019s Hospital also contributed to the research.<\/p>\n","protected":false},"excerpt":{"rendered":"
Children with a rare and often fatal genetic condition may benefit from early treatment with vitamin B3, halting their significant deterioration, according to a new study. The research, led by Murdoch Children\u2019s Research Institute (MCRI) and the Luxembourg Centre for Systems Biomedicine (LCSB), significantly expands our knowledge of NAXD deficiency, showing that high-dose niacin therapy… <\/p>\n","protected":false},"author":3,"featured_media":9629,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"rop_custom_images_group":[],"rop_custom_messages_group":[],"rop_publish_now":"no","rop_publish_now_accounts":[],"rop_publish_now_history":[],"rop_publish_now_status":"pending","neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":70,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","footnotes":""},"categories":[336],"tags":[661,45,664,662,663,660],"class_list":["post-34199","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-nutrition-2","tag-b","tag-children","tag-deterioration","tag-dosage","tag-naxd-deficiency","tag-vitamins"],"_links":{"self":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/34199","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/comments?post=34199"}],"version-history":[{"count":1,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/34199\/revisions"}],"predecessor-version":[{"id":34200,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/34199\/revisions\/34200"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/media\/9629"}],"wp:attachment":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/media?parent=34199"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/categories?post=34199"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/tags?post=34199"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}