Glycogen Storage Disease Type VII (GSD VII) stands out as an exceedingly rare autosomal recessive glycogen storage disorder resulting from homozygous or compound heterozygous mutations in the PFKM gene, responsible for encoding the muscle phosphofructokinase (PFK) enzyme (Uyeda, 1979; Musumeci et al., 2012). Here, PFKM is linked to glycogen storage disease VII.