NEW PUBLISHED ARTICLE: Everard et al., 2024

Congratulations to Dr. Everard, Dr. Nassogne, and colleagues on the publication of their article “Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study” in the 𝐸𝑢𝑟 𝐽 𝑃𝑎𝑒𝑑𝑖𝑎𝑡𝑟 𝑁𝑒𝑢𝑟𝑜𝑙 journal. We are delighted to have contributed to the success of this article!

𝐅𝐚𝐭𝐭𝐲 𝐚𝐜𝐢𝐝 𝐨𝐱𝐢𝐝𝐚𝐭𝐢𝐨𝐧 (𝐅𝐀𝐎) 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Undiagnosed FAO disorders are responsible of 𝐬𝐞𝐯𝐞𝐫𝐞 𝐧𝐞𝐮𝐫𝐨𝐥𝐨𝐠𝐢𝐜𝐚𝐥 𝐢𝐦𝐩𝐚𝐢𝐫𝐦𝐞𝐧𝐭 in patients. In this article, the authors investigated the impact of 𝐧𝐞𝐰𝐛𝐨𝐫𝐧 𝐬𝐜𝐫𝐞𝐞𝐧𝐢𝐧𝐠 (𝐍𝐁𝐒) for FAO disorders on neurological outcome of patients.

In this 𝐫𝐞𝐭𝐫𝐨𝐬𝐩𝐞𝐜𝐭𝐢𝐯𝐞 𝐚𝐧𝐝 𝐦𝐮𝐥𝐭𝐢𝐜𝐞𝐧𝐭𝐫𝐢𝐜 𝐬𝐭𝐮𝐝𝐲, the data of 54 patients with FAO disorders were collected. Overall, 64.8% patients were diagnosed after NBS, 31.5% patients on clinical presentation, and 3.7% patients after family screening. 𝐕𝐚𝐫𝐢𝐨𝐮𝐬 𝐝𝐞𝐟𝐢𝐜𝐢𝐞𝐧𝐜𝐢𝐞𝐬 𝐰𝐞𝐫𝐞 𝐢𝐝𝐞𝐧𝐭𝐢𝐟𝐢𝐞𝐝, such as medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, etc.

The neurological outcome of 25 patients with FAO after NBS results was compared with that of the patients diagnosed on clinical presentation. Further investigations are required to better understand the physiopathology of long-term complications to improve the quality of life of patients and ensure optimal management. The article is already available on the journal's website! DOI: http:/doi.org/10.1016/j.ejpn.2024.02.003