Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology
MADD is an underdiagnosed condition, and the description of new patients with various clinical presentations could support the development of clinical tools to promptly recognize this disease and allow physicians to deliver the most appropriate and effective therapy protocol, with Riboflavin and Carnitine supplementations, avoiding inappropriate treatments. The muscle biopsy was essential for a correct diagnostic assessment.
Authors
- Stefano Tozza (ORCID: https://orcid.org/0000-0002-9672-4577)
- Lucia Ruggiero (ORCID: https://orcid.org/0000-0002-7756-9567)
- Tiziana Fioretti (ORCID: https://orcid.org/0000-0001-8482-5293)
- Fiore Manganelli (ORCID: https://orcid.org/0000-0002-1442-9604)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- M. De Maria
- Raffaele Dubbioso (ORCID: https://orcid.org/0000-0003-2487-4741)
- Gabriella Esposito (ORCID: https://orcid.org/0000-0002-4255-7312)
- Rosa Iodice (ORCID: https://orcid.org/0000-0002-6939-4760)
- Dario Zoppi (ORCID: https://orcid.org/0009-0007-9794-9245)
- Valeria Maiolo
- Anna Russo (ORCID: https://orcid.org/0000-0002-0533-3053)
- Francesca Vallefuoco
Institutions
- Fondazione Stella Maris (IT)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Antioxidants
- Published
- 2025-11-26
- DOI
- https://doi.org/10.3390/antiox14121409
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00