Muscle Phosphofructokinase Deficiencies, also known as Glycogen Storage Disease Type VII (GSD VII) or Tarui disease, is a rare inherited metabolic disorder that affects the breakdown and utilization of glycogen, the primary storage form of glucose in the body. Phosphofructokinase (PFK) is an enzyme that plays a crucial role in the regulation of glucose metabolism and glycolysis, the process by which glucose is converted into energy.
In individuals with Muscle Phosphofructokinase Deficiencies, there is a deficiency or absence of the PFK enzyme in muscle tissues. This deficiency impairs the normal breakdown of glycogen into glucose, leading to an inadequate energy supply for muscle contraction and exertion.
Symptoms of Muscle Phosphofructokinase Deficiencies may vary widely. They can include exercise intolerance, muscle cramps, fatigue, and muscle pain. These symptoms are often exacerbated by physical activity and stress and may improve with rest. In severe cases, individuals may experience muscle weakness, myoglobinuria (the presence of myoglobin in the urine), and rhabdomyolysis (rapid breakdown of muscle tissue).
Diagnosis of Muscle Phosphofructokinase Deficiencies is typically confirmed through genetic testing, which identifies mutations in the PFKM gene responsible for the condition. Treatment options for this disorder are currently limited and focus primarily on managing symptoms. Avoiding strenuous exercise, maintaining a balanced diet, and ensuring adequate rest and hydration are typically recommended.
Muscle Phosphofructokinase Deficiencies is an autosomal recessive disorder, meaning that both parents must carry a gene mutation in order for a child to inherit the condition. Genetic counseling is often recommended for families with a history of this disorder
