glycogen storage disease Ia

info · Genetic

A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.

Signs and symptoms

Hyperlipidemia
Hepatomegaly
Lactic acidosis
Fasting hypoglycemia
Abnormal bleeding
Lipemia retinalis
Short stature
Decreased muscle mass
Osteoporosis
Hypoglycemia