L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.
Valentina RovelliJuri ZuvadelliMarta PiottoAndrea ScopariAlice Re DionigiVittoria ErcoliSabrina PaciGraziella CefaloElisabetta SalvaticiGiuseppe BanderaliPublished in: Italian journal of pediatrics (2022)
ERT is not curative for PD patients thus additional treatments could be considered to improve outcomes. Our patient showed physical signs of inability to accumulate energy when exclusively on ERT, while FM increase and REE reduction occurred when supplemented with LAOS, likely reflecting anabolic pathways' implementation. This is the first case reporting potential LAOS benefits in PD-on ERT patients. Longitudinal case control studies are yet needed to evaluate possible efficacy of combined LAOS And ERT treatment in PD patients.
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