glycogen storage disease type-VIII

Genetics

• caused by defects in PHKA2 gene

Clinical manifestations

• hepatomegaly, growth retardation, muscle weakness
• clinical abnormalities resolve & most adults are asymptomatic

Laboratory

• increased serum AST & serum ALT
• lipid panel
  • hypercholesterolemia
  • hypertriglyceridemia
• serum ketones: fasting hyperketosis

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• phosphorylase B kinase alpha-L (PHKA2, PHKLA, liver form)

Database

• OMIM: https://mirror.omim.org/entry/306000