Phosphofructokinase deficiency

Phosphofructokinase Deficiency

Phosphofructokinase deficiency (pronounced: fos-fo-fruk-toe-kin-ase deficiency) is a rare genetic disorder that affects the body's ability to break down glucose in the muscles, leading to muscle weakness and fatigue.

Etymology

The term "Phosphofructokinase" is derived from the Greek words "phospho" meaning light, "fructo" referring to fruit sugar, and "kinase" which means to move. The term "deficiency" comes from the Latin word "deficientia" meaning lacking.

Symptoms

The main symptoms of phosphofructokinase deficiency include muscle weakness, muscle pain, and fatigue. These symptoms are often triggered by strenuous exercise or fasting.

Causes

Phosphofructokinase deficiency is caused by mutations in the PFKM gene. This gene provides instructions for making an enzyme called phosphofructokinase, which is important for breaking down glucose in the muscles.

Diagnosis

Diagnosis of phosphofructokinase deficiency is typically made through a combination of clinical examination, patient history, and laboratory testing. This may include a muscle biopsy to examine the muscle tissue for signs of the disorder.

Treatment

There is currently no cure for phosphofructokinase deficiency. Treatment is focused on managing symptoms and may include dietary modifications and avoidance of strenuous exercise.

Related Terms

• Glycogen storage disease
• Muscle weakness
• Fatigue
• PFKM gene
• Muscle biopsy

External links

• Medical encyclopedia article on Phosphofructokinase deficiency
• Wikipedia's article - Phosphofructokinase deficiency

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