Phosphofructokinase Deficiency


Type of disease: Rare conditions

Phosphofructokinase deficiency is a rare genetic condition resulting from a mutation or error in a person’s DNA or genes. Phosphofructokinase deficiency causes dysfunction in the body’s ability to process carbohydrates. Typically, cells in our body, including blood cells and muscle cells, convert the carbohydrates that we consume, such as sugar, into energy that allows them to function. A person who has a phosphofructokinase deficiency cannot convert these carbohydrates into energy and which leads to symptoms including muscle cramps, muscle weakness, and dark urine. Doctors can diagnose phosphofructokinase deficiency through a muscle biopsy that can tell them the amount of the phosphofructokinase enzyme present in the muscle. Treatment of phosphofructokinase deficiency includes avoiding intensive exercise and potentially diet changes.

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