Glycogen storage disease type IV

Summary of Glycogen storage disease type IV

Glycogen storage disease type IV, or Andersen's disease, is a rare autosomal recessive metabolic disorder caused by mutation in the GBE1 gene and a defective glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. It affects 1 in 800,000 individuals worldwide and comprises 3% of all glycogen storage diseases.

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Glycogen storage disease type IV

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Glycogen storage disease type IV

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A 10-month female infant is brought the emergency department because of progressive abdominal distension. Medical history is significant for growth delay. On physical examination, the patient shows marked hepatomegaly, fluid wave sign, and shifting dullness. Her temperature is 36.5°C (98°F), pulse is 107/min, respirations are 16/min, and blood pressure is 120/70 mmHg. Laboratory studies show increased prothrombin time and partial thromboplastin time. A wedge biopsy of the liver shows positive periodic acid–Schiff stain, portal fibrosis, and fibrous septa. A deficiency of which of the following enzyme activities is the most likely cause of the findings in this patient?

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