Diazoxide in von Gierke's disease.

Studies in Glycogen Storage Diseases. I. Intestinal Glucose-6-phosphatase Activity in Patients with Von Gierke's Disease and Their Parents.

Dietary Therapy for Von Gierke’s Disease: A Case Report

Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seve...

Glycogen storage in the liver in diabetes mellitus.

In this clinic, where 800 patients are seen, we have noted what appears to be a new syndrome. It occurs in young, severe, " brittle" diabetics, and is characterized by two predominant features-an enlarged liver found to be full of glycogen and a constant tendency to hypoglycaemia while taking insulin. The enlarged liver, not unusual in diabetes mellitus and commonly supposed to be due to deposi...

Studies of Glycogen Metabolism in Liver Glycogen Disease (von Gierke's Disease): Six Cases with Similar Metabolic Abnormalities and Responses to Glucagon.

Glycogen disease of the liver (von Gierke's disease) is a rare and incompletely understood disorder of childhood. It is characterized by defective breakdown of liver glycogen to glucose. In most cases, excessive liver glycogen deposition occurs, reaching levels as high as 14 to 17 per cent of the wet liver weight (1, 2). Major clinical manifestations include hepatomegaly; fasting hypoglycemia, ...

Primary myocardial disease.

THE TERM primary myocardial disease refers to a variety of cardiac enlargement which is of unknown cause and frequently leads to cardiac dilatation, congestive heart failure, and finally to death. There are a number of synonyms. The disorder is also called idiopathic myocardial hypertrophy,' myocardiopathy, cardiac hypertrophy of unknown cause, and, especially in Great Britain, cardiomyopathy. ...