Glykogeeniketjun

Glykogeeniketjun, also known as glycogen storage disease type III, is a rare genetic disorder characterized by the accumulation of glycogen in various tissues, particularly the liver, kidneys, and muscles. This condition is caused by a deficiency in the enzyme glycogen debranching enzyme (GDE), which is responsible for breaking down glycogen into glucose. The absence of GDE leads to the formation of abnormal glycogen branches, which are not properly metabolized and instead accumulate in cells.

Glykogeeniketjun is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The disease typically presents in infancy or early childhood with symptoms such as hepatomegaly (enlarged liver), renal dysfunction, and muscle weakness. Over time, the accumulation of glycogen can cause damage to these organs, leading to progressive liver disease, kidney failure, and muscle atrophy.

The diagnosis of glykogeeniketjun is usually confirmed through genetic testing, which identifies mutations in the GDE gene. There is currently no cure for this condition, but treatment focuses on managing symptoms and preventing complications. This may include dietary modifications, such as a low-glycogen diet, and the use of medications to lower blood sugar levels and improve kidney function. In severe cases, liver transplantation may be necessary to alleviate symptoms and improve quality of life.