Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

• Main Authors: Hamza Hassan Khan (Author), Lauren Parr (Author), Allison Jay (Author), Saleem Raza (Author), Hernando Lyons (Author), Sanjay Kumar (Author)
• Format: Book
• Published: Hindawi Limited, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: th...