Glycogen Storage Disease Type I (von Gierke Disease)

What this deck covers

Glycogen Storage Disease Type I (von Gierke Disease) in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Glycogen storage disease type I (GSD I), Type 1 diabetes mellitus, Congenital hypothyroidism, Splenomegaly, jaundice and a cherry-red macular spot, Massive splenomegaly with lymphadenopathy and hepatomegaly, Jaundice, cirrhosis and coagulopathy, Liver glycogen phosphorylase, Debranching enzyme (amylo-1,6-glucosidase), Branching enzyme (amylo-1,4,1,6-transglucosylase), Glucose-6-phosphatase (G6Pase), Lactic acidosis, hypertriglyceridaemia and hyperuricaemia, Metabolic alkalosis, hypocalcaemia and hyponatraemia, Hyperammonaemia with elevated blood amino acids, Elevated ammonia, low glucose, elevated glutamine, Low lactate, elevated ketones, moderate hypoglycaemia, A more severe degree of hepatomegaly, Molecular genetic testing (G6PC and SLC37A4 sequencing), Glucagon stimulation test with glucose monitoring, Urine organic acids alone, High-fat, low-carbohydrate (ketogenic) diet, High-protein diet with amino acid supplementation, Continuous insulin infusion to regulate glucose balance, Colchicine only, as needed for acute attacks, Dietary protein restriction, Granulocyte colony-stimulating factor (G-CSF / filgrastim), Monthly intravenous immunoglobulin (IVIG).

Clinical pearls from this deck

• Severe fasting hypoglycaemia plus massive firm hepatomegaly in an infant of 3–6 months is GSD I until proven otherwise. The age is not coincidental — symptoms appear exactly as overnight feeding intervals lengthen. The seizure here is neuroglycopenic, not primarily neurological.
• The classic picture is doll-like facies from fat redistribution giving full rounded cheeks, massive hepatomegaly with a protuberant abdomen, and short stature from chronic metabolic derangement — in a child who nonetheless looks well nourished.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.