Glycogen storage diseases with mnemonics to aid memorization

A table summarizing the main glycogen storage diseases (GSDs) with enzyme defects, key clinical features, and mnemonics to aid memorization:

Glycogen Storage Disease Enzyme Defect Key Clinical Features Mnemonic
Type I: von Gierke Disease (GSD I) Glucose-6-phosphatase Severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperlipidemia, hyperuricemia “von Gierke: ‘G6P’s Gone, Liver Left Low”
Type II: Pompe Disease (GSD II) Acid maltase (α-1,4-glucosidase) Cardiomegaly, hypotonia, muscle weakness, glycogen buildup in lysosomes (infantile form often fatal) “Pompe Packs Glycogen in the Pump (heart)”
Type III: Cori Disease (GSD III) Debranching enzyme Hepatomegaly, mild hypoglycemia, muscle weakness, glycogen with short outer branches “Cori Can’t Clear Chains”
Type IV: Andersen Disease (GSD IV) Branching enzyme Hepatomegaly, cirrhosis, failure to thrive, abnormal glycogen with few branch points “Andersen’s Absent Arms (glycogen branches)”
Type V: McArdle Disease (GSD V) Muscle phosphorylase Exercise intolerance, muscle cramps, myoglobinuria, “second-wind” phenomenon “McArdle’s Muscles (need) More”
Type VI: Hers Disease (GSD VI) Liver phosphorylase Mild hypoglycemia, hepatomegaly, growth delay, generally mild disease course “Hers’ hypoglycemia is mild”
Type VII: Tarui Disease (GSD VII) Phosphofructokinase (PFK-1) Exercise intolerance, muscle cramps, myoglobinuria, hemolysis “Tarui tires easily”
Type IX: Phosphorylase Kinase Deficiency (GSD IX) Phosphorylase kinase Hepatomegaly, mild hypoglycemia, growth delay “Phosphorylase Kinase, kinder symptoms”

Explanation of Mnemonics:

  1. von Gierke: ‘G6P’s Gone, Liver Left Low: Highlights the deficiency in glucose-6-phosphatase and hypoglycemia.
  2. Pompe Packs Glycogen in the Pump (heart): Emphasizes glycogen buildup affecting the heart in Pompe disease.
  3. Cori Can’t Clear Chains: Reflects the incomplete breakdown of glycogen branches, causing short outer chains.
  4. Andersen’s Absent Arms: Refers to the abnormal structure of glycogen with few branches.
  5. McArdle’s Muscles (need) More: Highlights the energy deficiency in muscles during exercise due to glycogen buildup.
  6. Hers’ hypoglycemia is mild: Hers disease has mild hypoglycemia due to liver phosphorylase deficiency.
  7. Tarui tires easily: Reflects exercise intolerance due to impaired phosphofructokinase activity.
  8. Phosphorylase Kinase, kinder symptoms: Type IX has generally milder symptoms due to partial liver phosphorylase activation issues.
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