A 6-month-old who is failing to thrive is brought to your clinic. Tests reveal hepatosplenomegaly, muscle weakness and atrophy, hypotonia, and decreased deep tendon reflexes. Biopsy of the liver reveals initial stages of cirrhosis due to the accumulation of an abnormal glycogen whose structure resembles amylopectin. These results indicate the child is suffering from Andersen disease. Which of the following would also be expected in this child?
A) aminoaciduria
B) hyperglycemia
C) hyperlipidemia
D) hypoglycemia
E) normal glycemia

Question

Quizplus · Accepted Answer

Andersen disease or glycogen storage disease type IV (GSDIV) is also known as amylopectinosis. The disease results from defects in the gene encoding glycogen branching enzyme, also called amylo-(1,4 to 1,6) transglycosylase. The disease manifests with progressive hepatosplenomegaly along with the storage of an abnormal glycogen that exhibits poor solubility in the liver. The abnormal glycogen is characterized by few branch points with long outer chains containing more a-1,4-linked glucose than normal glycogen. Due to this structure of glycogen, the presence of normal activities of glycogen phosphorylase and glucose 6-phosphatase, patients with Andersen disease manifest the above symptoms but in the presence of normal serum glucose regulation.

A 6-Month-Old Who Is Failing to Thrive Is Brought to Your