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Glycogen storage disease is an inherited metabolic disorder that affects the body’s ability to create or convert glycogen into glucose, causing low blood sugar, muscle cramps, and organ failure. Diagnosis is made through physical exams and laboratory tests, and treatment includes enzyme replacement therapy and careful dietary monitoring.
Glycogen storage disease is an inherited disease that affects the metabolism. Individuals with the condition are either unable to create glycogen or their bodies cannot convert stored glycogen into usable glucose. Most medical authorities believe there are at least 11 different forms of glycogen storage disease, each occurring in one or more specific parts of the body, especially in the liver, muscles, or intestines. Many people with one form of the disease experience low blood sugar, muscle cramps, and weakness and possible failure of vital organs such as the heart or kidneys.
Glucose is a type of blood sugar that supplies energy to cells in the body. Glucose is digested and processed by many different foods and liquids, introduced into the bloodstream, and transported to cells throughout the body. After meals, healthy bodies store excess glucose for later use by converting it into glycogen. When a person needs extra energy, enzymes activate glycogen molecules and convert them back into usable glucose. An individual who has glycogen storage disease, however, may be unable to convert glycogen to glucose due to an enzyme deficiency.
A glycogen storage disease can occur in a single part of the body, such as the liver or certain muscles, or be more widespread. The different types of storage diseases are classified according to the organs or muscles affected, the type of enzyme deficiency and the symptoms present. Because glycogen storage disorders are congenital, symptoms are usually recognized in infancy. A child with one form of the disease might suffer from low blood sugar, a swollen liver, muscle cramps, aches and lack of energy. Depending on the specific enzyme deficiency, a child may be prone to anemia, stunted or stunted growth, kidney failure, heart failure, or even death.
Pediatricians and specialists usually diagnose glycogen storage disease by conducting physical exams, investigating family history, and collecting blood and urine samples for laboratory analysis. The presence or absence of glucose, enzymes, and cholesterol in blood and urine tests help doctors determine the specific type of glycogen storage disease. Once a diagnosis has been made, treatment plans can be considered and put into place immediately in an effort to prevent long-term health problems.
Enzyme replacement therapy is an effective form of treatment for some types of glycogen storage diseases. A doctor injects a solution containing specific enzymes directly into a patient’s bloodstream, promoting better regulation of glycogen levels and increasing the body’s ability to use glucose. Treatment may also involve careful monitoring of dietary intake to prevent hypoglycemia and related health problems. Children need frequent meals of foods high in carbohydrates and free of sucrose and lactose to promote healthy glucose production. Medical researchers are continually experimenting with various intravenous and oral medications in hopes of finding a more effective means of treatment for glycogen storage diseases.
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