USMLE Step 1 Pathology Practice Test 2025 – The Complete All-In-One Guide to Exam Success!

Cori's disease, also known as type III glycogen storage disease, is a condition that often presents in infants with hypoglycemia, failure to thrive, and hepatomegaly due to the body's inability to appropriately break down glycogen. In this disorder, there is a deficiency of the debranching enzyme, which is essential for the conversion of glycogen to glucose.

As a result, glycogen accumulates in the liver and muscle tissues, leading to the enlargement of the liver (hepatomegaly) since the liver attempts to store excess glycogen. The inability to release glucose from glycogen stores can lead to episodes of hypoglycemia, particularly during fasting periods. The failure to thrive is a consequence of the overall metabolic imbalance and insufficient energy availability, which adversely affects growth and development in infants.

In contrast, other conditions listed do not align as closely with the specific combination of symptoms. For example, general glycogen storage disease might present similarly but includes a broader category of disorders. Fructose intolerance typically manifests after the ingestion of fructose, leading to symptoms such as gastrointestinal distress rather than hepatomegaly or hypoglycemia at this young age. Wilson's disease primarily affects copper metabolism and usually leads to liver dysfunction