glycogenosis type O

Glycogenosis type O is a rare metabolic disorder characterized by a deficiency in the enzyme UDPG-glycogen transferase. This enzyme is crucial for glycogen synthesis, the process by which the body stores glucose. In individuals with type O glycogenosis, the liver cannot adequately store glycogen.

This deficiency leads to a condition called hypoglycemia, or low blood sugar, particularly in infants. When an infant with this condition goes without feeding for a period, their limited glycogen stores are rapidly depleted, causing dangerous drops in blood glucose levels. While other types of glycogen storage diseases affect liver or muscle function, type O specifically impacts the liver's ability to synthesize glycogen.1