Von Gierke and Pompe glycogen storage diseases vs Cori, McArdle, Andersen, and Hers glycogen storage diseases
How to tell Von Gierke and Pompe glycogen storage diseases and Cori, McArdle, Andersen, and Hers glycogen storage diseases apart when a board question makes them look alike.
Von Gierke is severe fasting hypoglycemia; Pompe is cardiomyopathic lysosomal disease; McArdle is exercise muscle disease; Andersen is cirrhotic branching disease.
Side by side
Von Gierke causes severe fasting hypoglycemia, lactic acidosis, hyperuricemia, hepatomegaly from glucose-6-phosphatase deficiency; Pompe causes cardiomyopathy and hypotonia from lysosomal acid alpha-glucosidase deficiency.
Cori causes milder limit-dextrin buildup; McArdle causes exercise cramps and myoglobinuria; Andersen causes abnormal branching with cirrhosis; Hers causes mild hepatic glycogenolysis defect.
Von Gierke blocks final hepatic free-glucose release, while Pompe traps glycogen inside lysosomes of muscle and heart.
Debranching, muscle phosphorylase, branching, or liver phosphorylase defects alter glycogen structure or tissue-specific glycogen breakdown.
Hypoglycemia plus lactic acidosis supports Von Gierke; cardiomegaly, hypotonia, and lysosomal glycogen support Pompe.
Exercise intolerance with second wind supports McArdle; cirrhosis with abnormal glycogen supports Andersen; mild hepatomegaly supports Hers.
The trap
Glycogen storage names blur together unless you attach enzyme, tissue, fasting glucose, heart, liver, and exercise clues.
The repair move
For glycogen storage disease, sort by liver glucose release, lysosome/heart, exercise muscle, or abnormal branching.
Try a free question
CoreA 6-month-old infant presents with severe fasting hypoglycemia (glucose 32 mg/dL after a 4-hour fast), massive hepatomegaly, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Cardiac exam is normal. Liver biopsy enzyme assay confirms deficiency of glucose-6-phosphatase. Which condition is most likely?
Show answer and explanation
Answer: A. Von Gierke disease (GSD type I). Von Gierke disease is glucose-6-phosphatase deficiency, blocking the final step of hepatic glucose release and producing severe fasting hypoglycemia, lactic acidosis from substrate shunting, hyperuricemia, and hyperlipidemia.
Why the other choices are tempting
- B. Pompe disease is lysosomal acid alpha-glucosidase deficiency producing infantile cardiomyopathy and hypotonia, not severe fasting hypoglycemia.
- C. McArdle disease affects skeletal muscle phosphorylase in adults with exercise cramps and myoglobinuria.
- D. Cori disease (debranching enzyme) causes milder hypoglycemia and hepatomegaly without lactic acidosis.
- E. Andersen disease (branching enzyme) causes hepatic cirrhosis from abnormal glycogen accumulation.
Flashcards
Tap a card to flip it.
What clue supports Von Gierke and Pompe glycogen storage diseases?
Choose Von Gierke and Pompe glycogen storage diseases when the stem gives this pattern: Von Gierke causes severe fasting hypoglycemia, lactic acidosis, hyperuricemia, hepatomegaly from glucose-6-phosphatase deficiency; Pompe causes cardiomyopathy and hypotonia from lysosomal acid alpha-glucosidase deficiency.
What clue supports Cori, McArdle, Andersen, and Hers glycogen storage diseases?
Choose Cori, McArdle, Andersen, and Hers glycogen storage diseases when the stem gives this contrasting pattern: Cori causes milder limit-dextrin buildup; McArdle causes exercise cramps and myoglobinuria; Andersen causes abnormal branching with cirrhosis; Hers causes mild hepatic glycogenolysis defect.
Quick answers
What is the fastest way to tell Von Gierke and Pompe glycogen storage diseases from Cori, McArdle, Andersen, and Hers glycogen storage diseases?
Von Gierke is severe fasting hypoglycemia; Pompe is cardiomyopathic lysosomal disease; McArdle is exercise muscle disease; Andersen is cirrhotic branching disease.
What is the key clue for Von Gierke and Pompe glycogen storage diseases?
Von Gierke causes severe fasting hypoglycemia, lactic acidosis, hyperuricemia, hepatomegaly from glucose-6-phosphatase deficiency; Pompe causes cardiomyopathy and hypotonia from lysosomal acid alpha-glucosidase deficiency.
What is the key clue for Cori, McArdle, Andersen, and Hers glycogen storage diseases?
Cori causes milder limit-dextrin buildup; McArdle causes exercise cramps and myoglobinuria; Andersen causes abnormal branching with cirrhosis; Hers causes mild hepatic glycogenolysis defect.
What is the common trap with Von Gierke and Pompe glycogen storage diseases vs Cori, McArdle, Andersen, and Hers glycogen storage diseases?
Glycogen storage names blur together unless you attach enzyme, tissue, fasting glucose, heart, liver, and exercise clues.