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Glycogen storage disease type III

Summary of Glycogen storage disease type III
Glycogen storage disease type III, also known as Cori disease or Forbes disease, is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes. It is a less severe form of Von Gierke disease, as gluconeogenesis remains intact in Cori disease.

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Glycogen storage disease type III

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Glycogen storage disease type III

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USMLE® Step 1 style questions USMLE

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 A 6-month male infant is referred to the pediatrician's office for the evaluation of an inborn error of metabolism. Medical history is relevant for low-weight and growth below the third percentile since birth. On physical examination, the baby is quivering and looks irritable, on abdominal palpation he has marked hepatomegaly, his liver edge is 4 cm below the right costal margin. His temperature is 36.7°C (98°F), pulse is 110/min, respirations are 30/min, blood pressure is 120/80 mmHg. Blood glucose is 45 mg/dL (2.5 mmol/L). A liver biopsy shows abnormal glycogen deposits, which contain single glucose residue at branches.  A deficiency of which of the following enzyme activities is the most likely cause of the findings in this patient? 

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