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01-05-2020 | Diseases of the neuromuscular synapses and muscles | Original Communication

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

Authors: Francesco Macchione, Leonardo Salviati, Andrea Bordugo, Monica Vincenzi, Marta Camilot, Francesca Teofoli, Elia Pancheri, Roberta Zordan, Cinzia Bertolin, Silvia Rossi, Gaetano Vattemi, Paola Tonin

Published in: Journal of Neurology | Issue 5/2020

Abstract

Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Treatment with riboflavin and l-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.

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Title: Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Authors: Francesco Macchione
Leonardo Salviati
Andrea Bordugo
Monica Vincenzi
Marta Camilot
Francesca Teofoli
Elia Pancheri
Roberta Zordan
Cinzia Bertolin
Silvia Rossi
Gaetano Vattemi
Paola Tonin
Publication date: 01-05-2020
Publisher: Springer Berlin Heidelberg
Keywords: Diseases of the neuromuscular synapses and muscles
Myopathy
Published in: Journal of Neurology / Issue 5/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09729-z

ACC 2024 Congress

Springer Medicine

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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