Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

• Main Authors: Alessandro Rossi (Author), Mariagrazia Turturo (Author), Lucia Albano (Author), Simona Fecarotta (Author), Ferdinando Barretta (Author), Daniela Crisci (Author), Giovanna Gallo (Author), Rosa Perfetto (Author), Fabiana Uomo (Author), Fabiana Vallone (Author), Guglielmo Villani (Author), Pietro Strisciuglio (Author), Giancarlo Parenti (Author), Giulia Frisso (Author), Margherita Ruoppolo (Author)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

IntroductionShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5) and urine 2-methylbutyrylglycine (2MBG)] in patien...