Abstract
We were interested to read this study, in which the authors applied a “genomics first” approach in 242 adult patients.1 They identified 3 patients from 2 families with an adult-onset peroxisomal disorder, alpha-methylacyl-CoA racemase deficiency. This condition was identified in 3 families with suspected mitochondrial disorders in the 100,000 Genomes Project and 1 patient in the whole-exome sequencing study by Theunissen et al.2,3
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