Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Ulrike MützeAlina OttenbergerFlorian GleichEsther M MaierMartin LindnerRalf A HusainKatja PalmSkadi BebloPeter FreisingerRené SanterEva ThimmStephan Vom DahlNatalie WeinholdKarina Grohmann-HeldClaudia HaaseJulia B HennermannAlexandra Hörbe-BlindtClemens KamrathIris MarquardtThorsten MarquardtRobert BehneDorothea HaasUte SpiekerkoetterGeorg F HoffmannSven F GarbadeSarah Catharina GrünertStefan Kölker

Published in: Annals of clinical and translational neurology (2024)

While NBS and early treatment result in improved (neonatal) survival, they cannot reliably prevent long-term morbidity in screened individuals with LCHAD/MTP deficiency, highlighting the urgent need of better therapeutic strategies and the development of disease course-altering treatment.

Keyphrases

fatty acid
replacement therapy
hydrogen peroxide
nitric oxide
brain injury