A RARE CASE OF GLYCOGEN STORAGE DISEASE TYPE III B PRESENTING WITH PROGRESSIVE ABDOMINAL DISTENSION

GSD Type III, an inherited disorder is caused by a defect in the bodys ability to completely break down glycogen to glucose due to a deficiency of an enzyme called glycogen debranching enzyme. Type IIIb have symptoms related to liver disease. We present a 2 year 2 month old female child evaluated for massive hepatomegaly found to have elevated liver enzymes. Liver biopsy report consistent with glycogen storage disease with fibrosis. Genetic analysis confirmed AGL gene mutation. Advised high protein diet, corn flour diet, regular monitoring of blood glucose and annual ultrasound screening for hepatic adenomas.