Amüloosi

Amüloosi is a rare inherited metabolic disorder that affects the breakdown of glycogen, a form of stored glucose in the body. This condition is caused by a deficiency in the enzyme amylophosphorylase, also known as glycogen phosphorylase. This enzyme is crucial for releasing glucose from glycogen stores, particularly in muscles.

When amylophosphorylase is deficient, glycogen cannot be properly broken down, leading to an accumulation of abnormal glycogen in muscle cells. This buildup can impair muscle function over time. The symptoms of amüloosi are primarily related to muscle weakness and fatigue, often appearing during or after physical exertion. Individuals may experience cramps, pain, and a reduced ability to perform strenuous activities. The severity of symptoms can vary among affected individuals.

Diagnosis of amüloosi typically involves a combination of clinical evaluation, blood tests to measure enzyme activity, and muscle biopsy to examine glycogen storage and enzyme levels. Genetic testing can confirm the diagnosis. Currently, there is no cure for amüloosi, but management focuses on alleviating symptoms and preventing complications. This often includes regular, moderate exercise to build muscle strength and endurance, avoiding intense or prolonged physical activity that can trigger symptoms, and maintaining a balanced diet. Physical therapy and occupational therapy may also be beneficial. The prognosis for individuals with amüloosi is generally good, with many living fulfilling lives with appropriate management.