Glycogen Storage Diseases

Glycogen Regulation

McArdle’s Disease

Glucose-6-phosphatase deficiency

also known as type 1 glycogen storage disease and Von-Gierkes' disease

Characteristic features:

Doll-like face (ie. fat cheeks), thin extremities, short stature, and protuberant abdomen (due to the enlarged liver and kidneys)

The spleen and heart are normal

Onset- 3-4 months of age

hypoglycemia (may presents with seizures)

lactic acidosis, hyperuricemia, and hyperlipidemia