Debranching Enzyme Deficiency
Debranching Enzyme Deficiency is a rare genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar. This condition is caused by a deficiency in the enzyme known as debranching enzyme, which is essential for the proper metabolism of glycogen. As a result, glycogen accumulates in various tissues, particularly in the liver and muscles, leading to various health issues.
Symptoms of Debranching Enzyme Deficiency can include muscle weakness, low blood sugar levels, and liver enlargement. The severity of the condition can vary among individuals, and it is often diagnosed through genetic testing and enzyme activity assays. Treatment typically focuses on managing symptoms and preventing complications.