The Glycogen Storage Diseases and Related Disorders

摘要: The liver glycogen storage disorders (GSDs) comprise GSD I, the hepatic presentations of III, IV, VI, forms IX, and 0. IX present similarly with hypoglycemia, marked hepatomegaly, growth retardation. I is most severe affecting both breakdown gluconeogenesis. In Ib there additionally a disorder neutrophil function. Most patients III have syndrome that includes hepatopathy, myopathy, often cardiomyo pathy. VI are least severe: only mild tendency to fasting size normalises age, reach normal adult height. IV manifests in infancy or childhood as failure cirrhosis leading end-stage disease. 0 presents early hypoglycemia ketosis and, contrast, postprandial hyperglycemia hyperlactatemia. Treatment primarily dietary aims prevent suppress secondary metabolic decompensation. This usually requires frequent feeds by day, some continuous nocturnal gastric feeding.