Name
GLYCOGEN STORAGE DISEASE TYPE IB
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 URIC ACID, SERUM LIPIDS ( TRIGLYCERIDES, CHOLESTROL, PHOSPHOLIPIDS ) - ELEVATED * VLDL , LDL , APOLIPROTEINS B , C & E - INCREASED * APOLIPROTEINS A & D - NORMAL OR REDUCED * BLEEDING TIME - PROLONGED DUE TO IMPAIRED PLATELET AGGREGATION / ADHESION. * ADMINISTRATION OF GLUCAGON OR EPINEPHRINE CAUSES LITTLE OR NO RISE IN BLOOD GLUCOSE BUT INCREASES LACTATE LEVELS SIGNIFICANTLY. * SERUM CREATINE KINASE LEVELS - INCREASED * LIVER BIOPSY - HEPATOCYTES DISTENDED BY GLYCOGEN & FAT WITH LARGE PROMINENT LIPID VACUOLES WITH LITTLE FIBROSIS. * LIVER FUNCTION TEST - NORMAL OR NEAR NORMAL BUT IN SOME CASES HEPATIC FAILURE OCCUR * PLATELET FUNCTION - IMPAIRED PLATELET AGGREGATION OR ADHESION LEADS TO PROLONGED BLEEDING TIME * URINE STUDIES - FOR MYOGLOBINURIA, PRESENT IN SOME CASES * ULTRA SOUND ABDOMEN - SEE FOR HEPATIC ADENOMA WHICH SOME TIMES CAN BECOME MALIGNANT * ISCHMIC FOREARM TEST - NORMAL
TYPENOTES
Genetic counseling is appropriate for all individuals with a genetic disorder." 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. " 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. " Adequate administration of starch may avoid hypoglycemia. Surgical Care Liver transplantation may be indicated for patients with hepatic malignancy. It is not clear if transplantation prevents further complications, although a study by Matern and colleagues demonstrated post-transplantation correction of metabolic abnormalities. Diet " A high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. A high-protein diet also may slow or arrest disease progression. " " Patients must receive adequate glucose. Deterrence/Prevention " Early diet therapy may help prevent hepatic disease, including hepatocellular carcinoma. Complications " Hypoglycemic seizures " Nephropathy with renal failure " Hepatic adenoma with potential malignant transformation " Inflammatory bowel disease (Recent evidence of an elevated platelet count in patients may be a warning sign of inflammatory bowel disease.) " Recurrent pulmonary and skin infections, likely secondary to neutropenia. " Secondary diabetes mellitus (may be a late complication) " Acute myelogenous leukemia (Pinsk and colleagues suggest surveillance for acute myelogenous leukemia as a potential complication of GSD Ib.) Prognosis " The disorder is not curable.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), BLEEDING TIME, CLOTTING TIME, SERUM URIC ACID, SERUM LIPIDS TOTAL, ULTRA SOUND WHOLE ABDOMEN - MALE, COMPLETE BLOOD COUNT, BLOOD SUGAR ( RANDOM )