Name
GLYCOGEN STORAGE DISEASE TYPE VI ( HERS DISEASE )
DESCRIPTION
DETAIL
D.D. : - ALCOHOLIC FATTY LIVER - OTHER FORMS OF GYCOGEN STORAGE DISEASES - HAEMOLYTIC UREMIC SYNDROME - HEPATIC CARCINOMA, PRIMARYOTHER TESTS : * LACTIC ACIDOSIS * BLOOD SUGAR LEVELS - DECREASED * SERUM CREATINE KINASE LEVELS - INCREASED * LIVER BIOPSY - * LIVER FUNCTION TEST - NORMAL OR NEAR NORMAL BUT IN SOME CASES HEPATIC FAILURE OCCUR ( RARE ). * URINE STUDIES - FOR MYOGLOBINURIA, PRESENT IN SOME CASES * ULTRA SOUND ABDOMEN - HEPATOMEGALY * ISCHMIC FOREARM TEST - NORMAL
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, reduce symptoms, and allow for growth and development. " 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 GSD type II, which may lead to therapies for other enzyme deficiencies. " A study by Asami and colleagues suggests that clonidine might be a treatment modality for Hers disease. 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. " High-carbohydrate diet is effective in preventing hypoglycemia. " Most patients require little specific dietary intervention. Complications " Complications are related to hypoglycemia. Prognosis " Hers disease is not curable. Hypoglycemia is preventable.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), ULTRA SOUND WHOLE ABDOMEN - MALE, COMPLETE BLOOD COUNT, URINE MYOGLOBULIN, LIVER FUNCTION TEST