In 2006, López et al.[18] described an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts due to compound heterozygous pathogenic variants in PDSS2 (c.964C>T, p.Glu322* and c.1145C>T, p.Ser382Leu). This evidence concerns the gene PDSS2 and hyperinsulinemic hypoglycemia, familial, 4.