Von-Gierke disease Type 1 Glycogen Storage Disease

• Facts:
  Glucose-6-phosphatase deficiency
• History / PE:
  3-4 months old
  Doll-like face (fat cheeks)
  Short stature
  Thin extremities
  Protuberant abdomen (big liver/kidneys)
  Spleen and heart normal
• Diagnosis:
  Lactic acidosis
  Fasting hypoglycemia
• Complications:
  Hypogylcemic seizures
• Differential Diagnosis:
  Beckwith-Wiedemann syndrome (hyperinsulinemia)