Glycogen Storage Disease Type IXb in a Neonate Caused by Two Mutations in PHKB Gene

Abstract

Glycogen storage disease (GSD) is rare to present in the neonatal period. We present a neonate with hypoglycemic coma, diagnosed as GSD IXb by whole-exome sequencing. The neonate improved with supportive care. We identified 2 variants in exon 22 and exon 24 of the PHKB gene located on chromosome 16q12.1 in a neonate whose parents were also found to carry these variants was detected by Sanger sequencing.