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Lookup NU author(s): Sila Hopton, Dr Langping He, Dr Charlotte Alston, Professor Robert TaylorORCiD, Dr Ana TopfORCiD, Professor Volker StraubORCiD
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© 2025 Elsevier B.V. Multiple-acyl-CoA-dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid and amino acid metabolism. Local experience and evolving literature highlights a paucity of genetically confirmed cases. A retrospective analysis of patients attending the West of Scotland neuromuscular service with a working diagnosis of late-onset MADD was undertaken. Nineteen cases were identified with median onset age of 52 years and female predominance. 8/19 presented with rhabdomyolysis and 11/19 with a subacute myopathy over mean 12.6 months. 14/19 had evidence of a provoking factor prior to clinical presentation and 16/19 had current sertraline use. All cases had abnormal acylcarnitine profiles in keeping with a MADDlike profile and abnormal skeletal muscle biopsies. Abnormal lipid accumulation was seen in 14/19, ranging from mild increase in lipid droplet size to gross lipid excess in seven cases. 4/19 were heterozygous for likely pathogenic ETFDH gene variants; no second variants were identified within the limits of testing available. All showed variable improvement following riboflavin therapy, advice on nutrition and advice on sertraline discontinuation. We suggest a late-onset MADD-like myopathy is much more common in the cohort than primary genetic MADD. Non-genetic and acquired factors may be causative, in keeping with the evolving literature.
Author(s): Watson-Fargie T, Coomber A, Edwards R, Barr M, Brennan K, Fletcher E, Miller-Hodges E, O'Sullivan D, Stewart K, Hopton S, He L, Alston CL, Taylor RW, Topf A, Straub V, Stewart W, Longman C, Farrugia ME
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2025
Volume: 49
Print publication date: 01/04/2025
Online publication date: 15/03/2025
Acceptance date: 13/03/2025
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier BV
URL: https://doi.org/10.1016/j.nmd.2025.105343
DOI: 10.1016/j.nmd.2025.105343
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