Von Gierke Disease (Children)
📖 About
- 🧬 Inherited in an autosomal recessive pattern
- Also known as Type I Glycogen Storage Disease (GSD)
- 🎯 Main goal of management = prevent hypoglycaemia
🧬 Aetiology
- ❌ Deficiency in Glucose-6-Phosphatase or Translocase enzyme
- ⛔ Inability to convert glycogen → glucose → impaired glucose production
🩺 Clinical Features
- 🍽️ Frequent hunger with constant need for food
- 😊 “Doll-like” face with chubby cheeks
- 🦵 Thin extremities & short stature
- ⚠️ Hypoglycaemia unresponsive to glucagon
- 🫀 Hepatomegaly ± nephromegaly (but spleen is normal)
🔬 Investigations
- 📈 Increased liver glycogen stores
- 🧪 Elevated blood lactate → lactic acidosis
- ⚠️ Hypoglycaemia
- 💎 Hyperuricaemia
- 🥛 Hyperlipidaemia → milky serum
💊 Management
- 🍞 Frequent, small meals with oral glucose
- 🚫 Avoid fructose & galactose
- 🌙 Overnight nasogastric (NG) feeding to prevent nocturnal hypoglycaemia
- 💊 Allopurinol to reduce uric acid levels
🔗 Links
Cases - Von Gierke Disease (GSD Type I) in Children
- Case 1 - Infant with hypoglycaemia 🍼: A 9-month-old boy presents with recurrent seizures, sweating, and irritability when feeds are delayed. Exam: protuberant abdomen with hepatomegaly. Bloods: hypoglycaemia (glucose 2.0 mmol/L), lactic acidosis, hyperuricaemia. Diagnosis: Von Gierke disease (glucose-6-phosphatase deficiency). Managed with frequent daytime feeds and continuous overnight NG glucose infusion.
- Case 2 - Toddler with growth delay 📉: A 2-year-old girl presents with short stature, doll-like facies, and central obesity. Parents report she “can’t go long without snacks.” Exam: marked hepatomegaly. Bloods: elevated triglycerides, low fasting glucose. Diagnosis: GSD Type I with failure to thrive. Managed with uncooked cornstarch at night to provide slow glucose release and prevent hypoglycaemia.
- Case 3 - School-aged child with complications ⚠️: A 7-year-old boy with known Von Gierke disease presents with abdominal pain and fatigue. Exam: hepatomegaly, mild splenomegaly. Bloods: persistent hyperuricaemia and hyperlipidaemia. Abdominal ultrasound: hepatic adenomas. Diagnosis: long-term complication of poorly controlled GSD Type I. Managed with strict dietary regimen, allopurinol for gout prevention, and surveillance for hepatic malignancy.
Teaching Point 🩺: Von Gierke disease (GSD I) is due to glucose-6-phosphatase deficiency.
Key features: fasting hypoglycaemia, hepatomegaly, lactic acidosis, hyperuricaemia, hyperlipidaemia.
Children present with seizures, growth delay, and “doll-like facies.”
Management is lifelong: avoid fasting, give frequent feeds, uncooked cornstarch, and monitor for complications (gout, hepatic adenomas, renal disease).
