Conditions / Genetic
liver glycogen storage disease
info · Genetic
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12.
Signs and symptoms
- Seizure
- Increased circulating lactate concentration
- Neonatal hypoglycemia
- Postprandial hyperglycemia
- Fasting hypoglycemia
- Ketosis