Phosphofructokinase deficiency

Phosphofructokinase deficiency is a rare genetic disorder that affects the body's ability to break down sugar for energy. It is also known as Glycogen storage disease type VII or Tarui disease. The condition is caused by mutations in the PFK gene, which provides instructions for making an enzyme called phosphofructokinase. This enzyme is involved in a process called glycolysis, which is the first step in converting glucose into energy.

Symptoms[edit | edit source]

The symptoms of phosphofructokinase deficiency can vary widely, but they often include muscle weakness and fatigue, especially after exercise. Some people may also experience muscle cramps or pain. In severe cases, the disease can lead to a breakdown of muscle tissue, which can cause dark urine and potentially damage the kidneys. Other symptoms can include a buildup of glycogen in the muscles and liver, and in some cases, anemia.

Causes[edit | edit source]

Phosphofructokinase deficiency is caused by mutations in the PFK gene. This gene provides instructions for making an enzyme called phosphofructokinase, which is involved in the process of glycolysis. When the PFK gene is mutated, the body cannot properly break down glucose for energy, leading to the symptoms of the disease.

Diagnosis[edit | edit source]

The diagnosis of phosphofructokinase deficiency is usually made based on the symptoms, a physical examination, and laboratory tests. These tests can include a blood test to measure the levels of certain enzymes in the blood, a muscle biopsy to look for a buildup of glycogen in the muscles, and genetic testing to look for mutations in the PFK gene.

Treatment[edit | edit source]

There is currently no cure for phosphofructokinase deficiency, but treatment can help manage the symptoms. This can include a high-protein diet to help build muscle, and avoiding strenuous exercise to prevent muscle breakdown. In some cases, medications may be used to help manage symptoms.

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