Makindo Medical Notes

📖 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

• Association for Glycogen Storage Disease

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).