ensiasema

Ensiasema is a rare genetic disorder characterized by the absence of the enzyme asialoglycoprotein receptor (ASGP-R), which is responsible for transporting asialoglycoproteins (ASGPs) from the liver to other tissues. This deficiency leads to the accumulation of ASGPs in the liver, causing a buildup of glycogen and fat, which can result in liver damage and failure. The condition is typically diagnosed in infancy or early childhood, and symptoms may include jaundice, liver enlargement, and poor growth. Treatment options are limited and often involve liver transplantation or supportive care to manage symptoms and slow the progression of liver damage. Ensiasema is an autosomal recessive disorder, meaning that both copies of the gene responsible for producing ASGP-R must be mutated for the condition to occur. The exact prevalence of ensiasema is unknown, but it is considered to be very rare. Research into the condition is ongoing, with a focus on developing new therapies and improving understanding of the underlying molecular mechanisms.