Muscle Phosphofructokinase Deficiency, also known as Tarui disease, is a rare inherited metabolic disorder that affects the breakdown of glucose in muscles. It is caused by mutations in the PFKM gene, which provides instructions for making the enzyme phosphofructokinase in the muscle cells.
Phosphofructokinase is an important enzyme in the process of glycolysis, which is the primary pathway for the breakdown of glucose to produce energy in the form of ATP. In individuals with Muscle Phosphofructokinase Deficiency, the enzyme is either absent or not functioning properly. This leads to an impaired ability to convert glucose to energy, resulting in muscle weakness and fatigue during sustained exercise or physical activity.
The symptoms of this condition typically appear in childhood or adolescence and vary in severity. Individuals may experience muscle cramps, pain, stiffness, and exercise intolerance. Some individuals may also develop myoglobinuria, a condition characterized by the presence of myoglobin (a protein found in muscle cells) in the urine, which can cause dark-colored urine.
Diagnosis of Muscle Phosphofructokinase Deficiency is typically made through blood tests that show low levels of phosphofructokinase activity in muscle tissue. Genetic testing can confirm the presence of mutations in the PFKM gene.
Treatment for Muscle Phosphofructokinase Deficiency aims to manage symptoms and improve quality of life. This may involve avoiding triggering factors such as intense exercise, maintaining a balanced diet, and in some cases, using medications to alleviate symptoms. Physical therapy may also be beneficial in managing muscle weakness and promoting mobility.
In summary, Muscle Phosphofructokinase Deficiency is a rare metabolic disorder that affects the breakdown of glucose in muscles, resulting
