What enzyme deficiency is responsible for type 1 glycogen storage disease?

Type 1 glycogen storage disease, also known as von Gierke disease, is characterized by a deficiency in glucose-6-phosphatase. This enzyme plays a crucial role in the final step of gluconeogenesis and glycogenolysis, where glucose-6-phosphate is converted into free glucose.

In individuals with this deficiency, the inability to convert glucose-6-phosphate into glucose leads to the accumulation of glycogen in the liver and kidneys, causing hepatomegaly and renal issues. Additionally, since glucose production is impaired, affected individuals experience hypoglycemia, particularly during fasting states. The symptoms and signs of this disorder can be severe and often manifest in early childhood, underlining the importance of glucose-6-phosphatase in maintaining normal blood glucose levels.

Understanding this deficiency highlights the broader implications in metabolic processes and how such enzymatic deficiencies can lead to significant physiological consequences.