Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile

Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile

ABSTRACT Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms, such as exercise intolerance and mu...

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Main Authors: Romain Penicaud, Jean‐Baptiste Ferron, Xavier Valette, Pierrick Bauduin, Maxime Faisant, Manuel Schiff, Alexandre Nguyen, Fanny Fontaine, Stéphane Allouche
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
acylcarnitine profile
beta‐oxidation
electron transfer flavoprotein dehydrogenase (ETFDH)
mitochondrial disease
multiple acyl‐CoA dehydrogenase deficiency (MADD)
rhabdomyolysis
Online Access:https://doi.org/10.1002/jmd2.70035
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https://doi.org/10.1002/jmd2.70035

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