A new variant in is associated with glycogen storage disease type IXa.

Glucogenosis type IX is caused by pathogenic variants of the gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. , , , and genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) in exon 18. analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site. The variant was found as a "" event.