Glycogen storage diseases are a group of metabolic disorders caused by enzyme deficiencies that affect glycogen synthesis or breakdown in the liver and/or muscles. The main symptoms include low blood sugar, liver enlargement, slow growth, muscle weakness, and breakdown of muscle fibers. Diagnosis involves biopsy, blood and urine tests, and MRI scans. There are several types of glycogen storage diseases categorized by the specific enzyme deficiency and accumulated metabolite. Treatment focuses on maintaining blood glucose levels through nasogastric infusion, medications to manage symptoms, dietary changes, and in severe cases, organ transplantation.
2. Glycogen storage diseases (GSD):
• A glycogen storage disease (GSD, also glycogenosis
and dextrinosis) is a metabolic disorder caused by
an enzyme deficiency affecting glycogen synthesis,
glycogen breakdown, or glucose breakdown,
typically in muscles and/or liver cells.
• GSD has two classes of cause: genetic and acquired.
3. Symptoms of GSD:
• Low blood sugar- Hypoglycemia
• Hepatomegaly- enlargrment of liver
• Slow growth
• Muscle weakness
• Myoglobinurea- acute breakdown of muscles
7. Treatment of GSD:
• Nasogastric infusion to maintain glucose level
• Allopurinol- decreases uric acid in blood
• Liver transplantation for type IV GSD
• High protein diet