Symptoms of Tarui disease
How does phosphofructokinase deficiency (Tarui disease; glycogenosis type VII) present?
The clinical manifestations of phosphofructokinase (fructose-6-phosphate to fructose-1, 6-phosphate) deficiency can be identical to those of McArdle disease. Glucose or sucrose intake before exercise may exacerbate the muscle symptoms. The second wind phenomenon is less common, and the exercise intolerance is likely to be associated with nausea and vomiting. About one-third of affected persons develop myoglobinuria, and most have elevated CK at rest. The disease can also cause hemolytic anemia.
Pearl : Consider this diagnosis in any patient with exercised-induced muscle symptoms, elevated CK, and hemolytic anemia.
