glycogenosis type XI

Glycogenosis type XI is a rare metabolic disorder characterized by a deficiency in the enzyme phosphoglucomutase. This deficiency affects glycogen metabolism, leading to altered glycogen breakdown and synthesis.12

The clinical manifestations of glycogenosis type XI fall into the group of liver-related glycogen storage diseases. Symptoms can range from mild to severe and may include hypoglycemia (low blood sugar) and an enlarged liver (hepatomegaly). These symptoms often improve or disappear by puberty. The genetic defect is typically inherited in an autosomal recessive pattern.12