Could heterozygous ETFB variants have clinically meaningful effects?
Is there evidence that individuals who are heterozygous for pathogenic or potentially hypomorphic ETFB variants can have measurable metabolic, mitochondrial, inflammatory, or exercise-related abnormalities without having classic MADD?
If so, what functional studies would best demonstrate this?
1 Answers
While some investigators have suggested a possible heterozygote effect with some CPT2 variants, there is no indication that such is the case with ETFB or more generally with other fatty acid oxidations.
I hope this helps.
Dr. Vockley
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