Interestingly, this systematic review revealed two papers reporting cases with apparently DLD and pathogenic gene variants in the genes DPYS and AUH, which are known to be responsible for the metabolic disorders Dihydropyrimidinase deficiency (OMIM # 222748) and 3-methylglutaconic aciduria type I (OMIM # 250950), respectively (60, 62). This evidence concerns the gene DPYS and dihydropyrimidinuria.