Article
A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.
International journal of molecular sciences - 15 Aug 2026
Baldo Francesco, Genova Elena, Capaci Valeria, Marrone Irene, Balasan Nour, Bianco Anna Monica, Zupin Luisa, Bruno Irene, Bonati Maria Teresa, Celsi Fulvio
Abstract excerpt
Multiple acyl-CoA dehydrogenase deficiency (MADD) is considered an autosomal recessive disorder; yet, recent findings suggest up to 10% of cases may result from heterozygous electron transfer flavoprotein dehydrogenase (ETFDH) variants exhibiting dominant or dominant-like effects. Here, a novel heterozygous ETFDH variant (c.1798A>C, p.Asn600His) was identified within a three-generation family. The grandfather...
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