ALLMedicine™ Glycogen Storage Diseases Center

Mar 23rd, 2022 - Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. Thus, liver transplantation (LT) has b...

Mar 17th, 2022 - Laboratory Studies Obtain a creatine kinase level in all suspected cases of glycogen storage diseases (GSDs). Obtain urine studies because myoglobinuria may occur in some GSDs. Obtain fasting blood glucose because hypoglycemia may be found in some...

Jan 7th, 2022 - Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs. Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed. Out of 55 GSD patients, 41 (74.5%)...

Dec 1st, 2021 - Glycogen storage diseases are carbohydrate metabolism disorders Overview of Carbohydrate Metabolism Disorders Carbohydrate metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes th...

Nov 12th, 2021 - Practice Essentials Glycogen storage diseases (GSDs) are inherited disorders due to enzymatic defects that prevent breakdown of stored glycogen into glucose. GSD type I, also known as Von Gierke disease, is an autosomal recessive disorder, divided...

Sep 16th, 2021 - The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Patients with Glycogen Storage Diseases will be exa...

Mar 30th, 2020 - Overview What are inherited metabolic disorders? Inherited metabolic disorders affect your body’s ability to convert food into energy and remove waste and unhealthy substances. Some conditions can damage cell development and brain function. Inheri...