Glycogen storage disease type VII
Glycogen storage disease type VII Causes
Splicing defects, frameshift mutations, and missense are present in the gene encoding of the M subunit of PFK. The disease is autosomal recessive in nature.
Glycogen storage disease type VII Definition
Glycogen storage disease type VII, also known as Tauri disease, affects only the muscle tissue. This is similar to GSD type V.
Glycogen storage disease type VII Diagnosis
Lab tests are necessary to diagnose the disease. These are needed to determine elevated bilirubin, increased reticulocystosis, normal lactic acid levels following exercise, and increased serum creatine kinase levels. Brain imaging scans may also be performed to diagnose the condition in patients who have infantile onset of symptoms. The scan is needed to determine ventricular dilatation and cortical atrophy.
Glycogen storage disease type VII Symptoms and Signs
Classic and late-onset symptoms include fixed limb weakness, jaundice, joint pain, muscle weakness especially after exercise, and muscle contractions. Fatal infant onset symptoms include cataracts, muscle weakness, and joint contractures.
Glycogen storage disease type VII Treatment
Presently, there are no known medications to treat this disease. However, patients must avoid stressful forms of exercise. Exercise may cause pain and even lead to kidney damage, and myoglobinuria may also occur as a result of this. A high-protein diet is found to be beneficial for some patients. High-carbohydrate foods must be avoided as they can contribute to exercise intolerance.