Name
GLYCOGEN STORAGE DISEASE TYPE VII ( TARUI DISEASE )
DESCRIPTION
DETAIL
D.D. : - ALCOHOLIC FATTY LIVER - OTHER FORMS OF GYCOGEN STORAGE DISEASES - HAEMOLYTIC UREMIC SYNDROME - HEPATIC CARCINOMA, PRIMARYOTHER TESTS : * BLOOD SUGAR LEVELS - DECREASED * SERUM URIC ACID - ELEVATED * SERUM CREATINE KINASE LEVELS - INCREASED * LIVER FUNCTION TEST - NORMAL OR NEAR NORMAL BUT IN SOME CASES HEPATIC FAILURE OCCUR * URINE STUDIES - FOR MYOGLOBINURIA, PRESENT IN SOME CASES * ISCHMIC FOREARM TEST - NORMAL, IN SOME POSITIVE * ELECTROMYOGRAPHY - NORMAL * MUSCLE BIOPSY * PHOSPHOFRUCTOKINASE IS ABSENT ON HISTOCHEMISTRY ASSAY SPECIFIC FEATURES WHICH DIFFERENTIATE TYPE VII FROM TYPE V : * COMPENSATED HEMOLYTIC ANEMIA IN TYPE VII * HYPERURICEMIA THAT IS WORSENED BY EXERCISE IN TYPE VII
TYPENOTES
" As with all genetic diseases, genetic counseling is appropriate.Medical Care " In general, no specific treatment exists for glycogen storage diseases (GSDs). " In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, allow for reduction in symptoms, and allow for growth and development in patients with GSDs. " Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. These findings suggest that corrective gene therapy for GSDs may be possible in humans. " An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies. Diet " Growing evidence indicates that a high-protein diet may provide increased muscle function in patients with weakness or exercise intolerance. Evidence also exists that a high-protein diet may slow or arrest progression of the disease. Activity " Avoidance of intense exercise may ameliorate symptoms. Complications " Tarui disease causes exercise intolerance and mild hemolysis. Prognosis " No cure exists.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), SERUM URIC ACID, COMPLETE BLOOD COUNT, ELECTROMYOGRAPHY, BIOPSY STRIATED MUSCLE, URINE MYOGLOBULIN, LIVER FUNCTION TEST