What is glycogen storage diseases type I (GSD1)?
Glycogen Storage disease type I (GSD1) is the most common type of glycogen storage disease detected in most people. An inherited defect in the enzyme glucose – 6 – phosphatase (G6Pase) is the sole cause of this metabolic disease. GSD1 can be categorized even further into two sub categories based on its location and other defects, GSD type Ia and GSD type Ib. Without G6Pase properly functioning, there would be a break in the final step of gluconeogenesis and the body would be unable to supply the blood with glucose. \
Why do individuals with GSD1 have severe….
Fasting hypoglycemia: Blood glucose levels are low in GSD1 patients due to the defect/blockage in the individuals G6Pase used during gluconeogenesis. …show more content…
Some of this excess pyruvate will get converted into Acetyl CoA that can flow into the TCA cycle, but not all of it will be utilized. The remaining Acetyl CoA not used in the TCA cycle will flow back into the cytosol and serve as a substrate for fatty acid synthesis. If an individual is continuously producing excess Acetyl CoA for fatty acid synthesis, they will develop an accumulation of lipids leading to hyperlipidemia.
What are some of the dietary treatment strategies for individuals with this genetic condition?
The main treatment for GSD1 is dietary through frequent meals, cornstarch and nasogastric drips to maintain a normal glucose levels. Each individual’s meal must be frequent and meet specific caloric requirements. An individual’s diet is suggested to provide 60-50% total caloric intake from CHOs, 10-15% from PRO and the rest from fat. Cornstarch is implemented as a treatment strategy starting at a certain age to replace the nocturnal nasogastric feedings. Due to its slow digestion rate, cornstarch also provides the body with a continual influx of glucose between meals. Treatment is continuously monitored and adjusted throughout an individual’s lifetime depending on their clinical and biological
Glycogen Storage disease type I (GSD1) is the most common type of glycogen storage disease detected in most people. An inherited defect in the enzyme glucose – 6 – phosphatase (G6Pase) is the sole cause of this metabolic disease. GSD1 can be categorized even further into two sub categories based on its location and other defects, GSD type Ia and GSD type Ib. Without G6Pase properly functioning, there would be a break in the final step of gluconeogenesis and the body would be unable to supply the blood with glucose. \
Why do individuals with GSD1 have severe….
Fasting hypoglycemia: Blood glucose levels are low in GSD1 patients due to the defect/blockage in the individuals G6Pase used during gluconeogenesis. …show more content…
Some of this excess pyruvate will get converted into Acetyl CoA that can flow into the TCA cycle, but not all of it will be utilized. The remaining Acetyl CoA not used in the TCA cycle will flow back into the cytosol and serve as a substrate for fatty acid synthesis. If an individual is continuously producing excess Acetyl CoA for fatty acid synthesis, they will develop an accumulation of lipids leading to hyperlipidemia.
What are some of the dietary treatment strategies for individuals with this genetic condition?
The main treatment for GSD1 is dietary through frequent meals, cornstarch and nasogastric drips to maintain a normal glucose levels. Each individual’s meal must be frequent and meet specific caloric requirements. An individual’s diet is suggested to provide 60-50% total caloric intake from CHOs, 10-15% from PRO and the rest from fat. Cornstarch is implemented as a treatment strategy starting at a certain age to replace the nocturnal nasogastric feedings. Due to its slow digestion rate, cornstarch also provides the body with a continual influx of glucose between meals. Treatment is continuously monitored and adjusted throughout an individual’s lifetime depending on their clinical and biological