Article
Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants.
Cell communication and signaling : CCS - 2 Jun 2026
Ma Jing, Zhang Huiqiu, Jiao Jiaqi, Su Menghan, Zhao Junsen, Liu Dan, Wen Qi, Wang Jianli, Wang Juan, Duan Weisong, Chang Xueli, Guo Junhong, Zhang Wei
Abstract excerpt
BACKGROUND: Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) is an autosomal recessive disorder of fatty acid oxidation predominantly caused by variants in the ETFDH gene. However, approximately 10% of patients carry a single heterozygous variant. We hypothesize that ETFDH haploinsufficiency may contribute to the development of RR-MADD, especially under certain environmental stressors....
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