OTC and ornithine carbamoyltransferase deficiency: GenMed Metabolism Lab submitted this variant, NM_000531.6:p.Gly50Arg in OTC, an X-linked gene, in 2014 and cited an article in which researchers found this variant in a male with late-onset Ornithine transcarbamylase deficiency (OTCD) but did not provide the age of onset [60].