Glycogen storage disease type 7
Glycogen storage disease type 7 Causes
The disease, the same with glycogen storage diseases types 1 to 5, are caused by its autosomal recessive nature. However, the transmission mode of type 7 remains unknown.
Glycogen storage disease type 7 Definition
Glycogen storage disease type 7, also called Phosphorofructokinase deficiency or Tarui's disease, is a metabolic disease characterized by a deficiency in the phosphorofructokinase enzyme. This in turn disturbs the function of the cells, including rhabdomyocytes and erythrocytes, to utilize carbohydrates for energy. The disease is autosomal recessive in nature, and may affect mammals apart from humans.
Glycogen storage disease type 7 Diagnosis
A liver biopsy is conducted to diagnose GSD type 7, and if positive a patient will show results with decreased or no glucose-6-phosphate activity although phosphorylase enzyme and glycogen synthetase activities remain normal. Spectroscopy may also be conducted to show presence of abnormal muscle activity.
Glycogen storage disease type 7 Symptoms and Signs
The most common symptoms include stiff muscles after exercise, fatigue, reduced red cell phosphorofructase activity, reticulocystis, and reduced red cell life span. Other symptoms include muscle cramps, muscle pain after exercise, gout, recurrent jaundice, increased blood uric acid levels, and destruction of red blood cells. In rare cases, myoglobin is present in the urine.