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

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

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...

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Bibliographic Details
Main Authors: Alessandro Rossi, Mariagrazia Turturo, Lucia Albano, Simona Fecarotta, Ferdinando Barretta, Daniela Crisci, Giovanna Gallo, Rosa Perfetto, Fabiana Uomo, Fabiana Vallone, Guglielmo Villani, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Margherita Ruoppolo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
amino acid
2-methylbutyrylglycinuria
biomarkers
monitoring
treatment
carnitine
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.895921/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.895921/full

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