American Board of Genetic Counseling (ABGC) Boards Practice Test

The condition characterized by a deficiency of the enzyme glucose-6-phosphatase is Von Gierke Disease. This enzyme plays a crucial role in the final step of gluconeogenesis and glycogenolysis, specifically in the conversion of glucose-6-phosphate to glucose. When glucose-6-phosphatase is deficient, individuals cannot effectively release glucose into the bloodstream, leading to severe hypoglycemia and an accumulation of glycogen in the liver and kidneys.

Symptoms associated with Von Gierke Disease often include hepatomegaly, renal complications, and developmental delays due to the metabolic imbalances caused by the inability to produce free glucose. The condition requires careful management through dietary interventions to prevent hypoglycemic episodes, often involving the administration of uncooked cornstarch or frequent feedings.

While other options mentioned represent different glycogen storage disorders, they are characterized by deficiencies of other enzymes. For example, Anderson Disease involves branching enzyme deficiency, Pompe Disease is due to acid maltase deficiency, and Cori Disease is caused by a debranching enzyme deficiency. Understanding the specific enzyme deficiencies helps clarify the distinct metabolic pathways and clinical presentations associated with each condition.