Name
GLYCOGEN STORAGE DISEASE TYPE III ( FORBES-CORI DISEASE )
DESCRIPTION
DETAIL
D.D. : - ALCOHOLIC FATTY LIVER - OTHER FORMS OF GYCOGEN STORAGE DISEASES - HAEMOLYTIC UREMIC SYNDROME - HEPATIC CARCINOMA, PRIMARYOTHER TESTS : * SERUM CREATINE KINASE LEVELS - INCREASED * BLOOD SUGAR - LOW * LACTIC ACIDOSIS - PRESENT * SERUM LIPIDS - HIGH - TRIGLYCERIDES , CHOLESTROL & PHOSPHOLIPIDS ARE RAISED - INCREASED LEVELS OF VLDL , LDL , APOLIPOPROTEINS A, C & E. - APOLIPOPROTEINS A & D MAY BE NORMAL OR REDUCED. * 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 - POSITIVE * MUSCLE BIOPSY - PERIODIC ACID-SCHIFF POSITIVE WITH BASOPHILIC DEPOSIT IN ALL TISSUES * ELECTROMYOGRAPHIC PATTERN - DIVERSE & VARY FROM PT TO PT. SPONTANEOUS FIBRILLATION & MYOTONIC DISCHARGES SEEN * ULTRA SOUND ABDOMEN - HEPATOMEGALY * CHEST X-RAY - CARDIOMEGALY * DEXTRIN - PRESENT : DIAGNOSTIC
TYPENOTES
Genetic counseling is appropriate for all individuals with a genetic disorder." In general, no specific treatment exists for 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. " 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. Surgical Care Liver transplantation may be indicated for patients with hepatic malignancy. Whether transplantation prevents further complications is not clear, although a study by Matern and colleagues demonstrated posttransplantation correction of metabolic abnormalities. Diet Cornstarch therapy may be beneficial in reducing hypoglycemia. Complications " Hepatocellular carcinoma " " Hepatic failure Prognosis " Unfortunately, severe hepatic failure with possible malignant transformation may be fatal. Matern and colleagues (1999) present evidence that hepatic transplant may be effective at arresting this condition.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), COMPLETE BLOOD COUNT, URINE MYOGLOBULIN, LIPIDS PROFILE, LIVER FUNCTION TEST