Which glycogen storage disease specifically affects glycogenesis?

The NBME Form 31 Test is your guide to mastering medical examinations. Engage with questions, explore detailed explanations, and enhance your medical knowledge. Get exam-ready now!

Andersen's disease, also known as glycogen branching enzyme deficiency, specifically affects glycogenesis because it impacts the enzyme that catalyzes the formation of α-1,6-glucosidic bonds in glycogen. This enzyme is crucial for branching in the glycogen molecule, and its deficiency leads to the accumulation of abnormal glycogen with long, unbranched chains. This disruption in proper glycogen structure results in difficulties in glycogen metabolism and storage.

In contrast, the other glycogen storage diseases mentioned involve different metabolic pathways or enzymes. Corral's disease, which is not a widely recognized name, is likely referring to GSD type II or a related condition not primarily focused on glycogenesis. Pompe's disease primarily affects lysosomal alpha-glucosidase, leading to accumulation of glycogen in lysosomes and affecting muscle and cardiac function, rather than directly impairing the biosynthesis of glycogen. McArdle’s disease specifically involves a deficiency in muscle glycogen phosphorylase, which affects glycogenolysis (the breakdown of glycogen), thereby not directly impacting glycogenesis either.

Thus, Andersen's disease correctly illustrates a specific defect in the glycogenesis pathway, highlighting its unique impact on the proper synthesis and structure of glycogen

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy