What is glycogen storage disease?

Glycogen storage disease is a inherited disorder that affects metabolism. Individuals with state are unable to create glycogen or their bodies cannot convert stored glycogen into usable glucose. Most medical authorities believe that there are at least 11 different forms of disease storage of glycogen, each of which occurs in one or more specific parts of the body, especially in liver, muscles or intestines. Many people with the form of illness are subject to hypoglycaemia, muscle cramps and weaknesses and possible failure of vital organs such as heart or kidneys. Glucose is cleaved and processed from many different foods and liquids, introduced into the bloodstream and transmitted to cells throughout the body. After eating, healthy bodies store excess glucose for later use by turning into glycogen. When one needs additional energy, enzymes activate glycogen molecules and convert them back into usable glucose. However, an individual who has glycogen storage disease may not be able toconvert glycogen into glucose due to lack of enzyme.

Glycogen storage disease may occur in one part of the body, such as the liver or certain muscles, or to be more widespread. Different types of storage diseases are classified by affected organs or muscles, a type of lack of enzyme and symptoms present. Because glycogen storage disease is congenital, symptoms are usually recognized in infancy. A child with a form of illness may suffer from hypoglycaemia, swollen liver, muscle convulsions, pain and lack of energy. Depending on the specific lack of enzyme, the child may be exposed to anemia, delayed or stunted growth, kidney failure, heart failure or even death.

Pediatrics and specialists usually diagnose storage disease glycogenuction of physical examinations, exploration of family history and collecting blood and urine samples for laboratory analysis. PresentST or absence of glucose, enzymes and cholesterol in blood and urine screening allows doctors to determine a specific type of glycogen storage disease. Once the diagnosis is made, treatment plans can be considered and enacted immediately in an effort to prevent long -term health problems.

Substitution therapy with enzyme is an effective form of treatment of some types of disease storage glycogen. The doctor puts a solution containing specific enzymes directly into the patient's bloodstream, promotes better regulation of glycogen levels and increases the body's ability to use glucose. Treatment may also include careful monitoring of food intake to prevent hypoglycaemia and related health problems. Children need frequent feeding of foods with a high content of carbohydrates and without sucrose and lactose to support healthy glucose production. Medical scientists are constantly experimenting with various intravenous and oral drugs in the hope of finding more effective means of treatment for glycogen storage diseases.