Hypoglycemia with deficiency of glycogen synthetase in the liver

Hypoglycemia with deficiency of glycogen synthetase in the liver is a rare metabolic disorder characterized by low blood sugar (Hypoglycemia) due to a lack of glycogen synthetase activity in the liver. Glycogen synthetase is an enzyme crucial for the synthesis of glycogen, the storage form of glucose in the body. This condition falls under the broader category of Glycogen storage diseases (GSDs), which are genetic disorders affecting glycogen metabolism.

Symptoms and Diagnosis

Individuals with this condition typically present symptoms related to hypoglycemia, which can include fatigue, confusion, tremors, sweating, and, in severe cases, seizures or loss of consciousness. The diagnosis of this specific type of GSD is based on biochemical tests that show impaired glycogen synthesis in the liver, alongside genetic testing to identify mutations in the gene responsible for glycogen synthetase.

Treatment

Management of this condition primarily focuses on preventing hypoglycemia. Strategies may include frequent high-carbohydrate meals or continuous glucose feeding in severe cases. Uncooked cornstarch as a slow-release carbohydrate source can also be beneficial, especially during nighttime to prevent fasting hypoglycemia.

Genetics

The deficiency is caused by mutations in the gene that encodes the glycogen synthetase enzyme. This gene is located on the human chromosome that carries genetic information for the synthesis of this enzyme. The inheritance pattern of this disorder is typically autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Epidemiology

Due to its rarity, the exact prevalence of hypoglycemia with deficiency of glycogen synthetase in the liver is not well-documented. It is considered a very rare condition within the spectrum of glycogen storage diseases.

See Also

• Glycogen storage disease type 0
• Glycogen
• Metabolic disorder
• Hypoglycemia