Von Gierke disease

Cori disease

Abnormal glycogen branch like coral.

• Clinical presentation is similar to that of type I, though symptoms tend to be less severe.
• Generalized muscle weakness and/or cramps
• Possibly cirrhosis (ascites, hepatomegaly, and splenomegaly)
• Mild, fasting hypoglycemia and ketosis
• Hyperlipidemia
• Cytosolic accumulations of limit dextrin-like complexes
• Blood lactate levels are normal.
• Gluconeogenesis is functional.
• Type III may result in cardiomyopathy.

McArdle disease & Hers disease

Mnemonic

Muscle → McArdle’s Hepatic → Her’s

• Flat venous lactate curve with exaggerated elevations in blood ammonia during exercise
  • No glucose, can’t produce lactate
  • Increased protein and amino acid Metabolism

Mnemonic

Mr. Anderson’s black coat is long and straight.

Pompe disease

• This condition is caused by deficiency of acid alpha-glucosidase (alpha-1,4 glucosidase or acid maltase), an enzyme responsible for breaking down glycogen within the acidic environment of lysosomes.
• Although most glycogen is degraded in the cytoplasm, a small percentage is inadvertently engulfed by lysosomes, especially in cells containing high amounts of glycogen such as hepatocytes and myocytes. Deficiency of acid maltase results in pathologic accumulation of glycogen within liver and muscle lysosomes. Cardiac and skeletal muscle are particularly susceptible because the ballooning lysosomes interfere with contractile function.