glycogen storage disease type 0 (muscle, liver types)

Genetics

• associated with defects in GYS1 (muscle), GYS2 (liver)

Clinical manifestations

• fasting hypoglycemia presenting in infancy or early childhood
• although feeding relieves symptoms, it often results in postprandial hyperglycemia & hyperlactatemia

Laboratory

• fasting hypoglycemia
• high serum ketones
• low serum alanine & serum lactate

More general terms

• glycogen storage disease (glycogenosis)