Question of the Day!

A 3 year-old has always seemed tired but now has been having convulsions and noticeably sore joints. After a CBC and other lab tests, a CT scan demonstrates hepatomegaly and renomegaly. It is determined that the CT results were due to accumulations of glycogen. This patients’ condition is due to a defect of what enzyme?

A) alpha-glucosidase
B) glycogen phosphorylase
C) aldolase B
D) iduronate sulfatase
E) glucose-6-phosphatase

















Answer: E) glucose-6-phosphatase. This patient has the glycogen storage disease- Type I Von Gierke. This disease if untreated will lead to failure to thrive, stunted growth, hepatomegaly, and renomegaly. A fasting hypoglycemia that leads to convulsions is also seen. Some patients even develop gout and skin xanthomas. A defect in glucose-6-phosphatase leads to accumulations of glycogen in the liver and kidneys.