Nine genes causing a metabolic disorder were identified and treatment was changed for 7 patients: 2 were considered for conservative management and the remaining patients had a more targeted bespoke therapy such as oral uridine for CAD, cerliponase alfa for TPP1, riboflavin supplementation for SLC52A3, and ketogenic diet for ALG13 variants [19–22]. This evidence concerns the gene SLC52A3 and metabolic disease.