PYGL and Hypoglycemia: Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.<h4>Results</h4>We report on two non-related Turkish patients with a novel homozygous splice site variant, c.345G>A, which was shown to lead to exon 2 skipping of the PYGL-mRNA by exome and transcriptome analysis.