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Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui’s disease,[1][2] is metabolic disorder with autosomal recessive inheritance.
It may affect humans as well as other mammals (especially dogs).[3] In humans it is the least common type of glycogen storage disease.
In this condition, a deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy.
Unlike most other glycogen storage diseases, it directly affects glycolysis.[4]
The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with haemolytic anaemia causing dark urine a few hours later. Hyperuricemia is common.[5]
Other deficiency diseases with similar signs and symptoms include deficiencies of phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase, beta-enolase and aldolase A.[5]
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