glycogen storage disease type-VI (Hers type glycogen storage disease)

Pathology

• heart & skeletal muscle are not affected

Genetics

• associated with defects in PYGL

Clinical manifestations

• prominent hepatomegaly
• growth retardation

Laboratory

• mild to moderate fasting hypoglycemia
• mild ketosis

Diagnostic procedures

• no response of plasma glucose to IM glucagon

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• phosphorylase-L (liver glycogen phosphorylase, PYGL)

Database

• OMIM: https://mirror.omim.org/entry/232700