Short/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 patient monitoring and the effects of proposed treatments remain uncertain as follow-data are lacking. This study presents first systematic longitudinal biochemical assessment in SBCADD patients.
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues / Rossi, A., Turturo, M., Albano, L., Fecarotta, S., Barretta, F., Crisci, D., Gallo, G., Perfetto, R., Uomo, F., Vallone, F., Villani, G., Strisciuglio, P., Parenti, G., Frisso, G., Ruoppolo, M.. - In: FRONTIERS IN PEDIATRICS. - ISSN 2296-2360. - 10:(2022), p. 895921. [10.3389/fped.2022.895921]
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
Rossi, Alessandro;Turturo, Mariagrazia;Fecarotta, Simona;Villani, Guglielmo;Strisciuglio, Pietro;Parenti, Giancarlo;Frisso, Giulia;Ruoppolo, Margherita
2022
Abstract
Short/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 patient monitoring and the effects of proposed treatments remain uncertain as follow-data are lacking. This study presents first systematic longitudinal biochemical assessment in SBCADD patients.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
