What enzyme deficiency is responsible for von Gierke's Disease?

What enzyme deficiency is responsible for von Gierke's Disease?

• A. Galactose-1-phosphate uridine diphosphate transferase
• B. Glucose-6-phosphatase
• C. Pyruvate kinase
• D. Alpha-galactosidase

Answer: (B)

Von Gierke's Disease is caused by a deficiency in glucose-6-phosphatase. This enzyme plays a critical role in gluconeogenesis and glycogenolysis; it is responsible for the conversion of glucose-6-phosphate into glucose, which is essential for maintaining blood sugar levels. In individuals with von Gierke's Disease, this enzymatic deficiency impairs the liver's ability to produce free glucose from glycogen breakdown or from glucose synthesis. As a result, patients experience severe hypoglycemia, particularly between meals, and may also exhibit symptoms such as hepatomegaly and growth retardation due to the accumulation of glycogen and fatty acids in the liver. The other enzymes listed are associated with different glycogen storage diseases or metabolic disorders. Understanding the role and significance of glucose-6-phosphatase in the context of glycogen metabolism is crucial for recognizing how its deficiency specifically leads to the clinical manifestations of von Gierke's Disease.

Von Gierke's Disease is caused by a deficiency in glucose-6-phosphatase. This enzyme plays a critical role in gluconeogenesis and glycogenolysis; it is responsible for the conversion of glucose-6-phosphate into glucose, which is essential for maintaining blood sugar levels. In individuals with von Gierke's Disease, this enzymatic deficiency impairs the liver's ability to produce free glucose from glycogen breakdown or from glucose synthesis. As a result, patients experience severe hypoglycemia, particularly between meals, and may also exhibit symptoms such as hepatomegaly and growth retardation due to the accumulation of glycogen and fatty acids in the liver.

The other enzymes listed are associated with different glycogen storage diseases or metabolic disorders. Understanding the role and significance of glucose-6-phosphatase in the context of glycogen metabolism is crucial for recognizing how its deficiency specifically leads to the clinical manifestations of von Gierke's Disease.