ArticleJournal of clinical neurology (Seoul, Korea)2024
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
Article in Journal of clinical neurology (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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6 authors.
Funding
Abstract
background and purposeMultiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort.
methodsAmong the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood. All 13 exons of the electron-transfer flavoprotein dehydrogenase gene (
resultsFourteen (82%) of the 17 LSM patients had MADD with
conclusionsMost of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with
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