Glycogen Storage Disease

Glycogen storage disease (GSD I-A) affects the enzyme glucose-6-phosphatase found in the liver. This enzyme is found in the liver, and regulates the breakdown of glucose over time while a person is not eating food. With an enzymatic defect, carbohydrate metabolic pathways are blocked, causing an excess of surplus glycogen in affected tissues. GSDs are found in two point three children out of one hundred thousand births, this disease is present in childhood and are less severe as the child, or in this case Jonah when he ages. It allows a person to maintain energy and do activities throughout the day. This disease can also affect energy storage in the body. Because glucose is not used then it is not broken down, due to the glucose-6-phosphate deficiency, most of it is turned into fat. Because this is stored in the liver, it can lead to excess fat in the liver, which can be dangerous. There is no cure for this disease but diet therapy is highly effective.

Individuals with GSD have low blood sugar because they are hypoglycemic, or have low glucose levels. The amount of glucose within the body impacts blood sugar levels. Individuals with GSD do not have the ability to release glucose into their body, and therefore, break down simple sugars. They cannot take in simple sugars as a result because if they did, there is a likelihood the body will go into shock or even to death. They have elevated levels of glycogen inside their cells because the body lacks the enzyme that releases the glucose from the cells. This correlates with hyperlipidemia because the cells cannot timely release glucose into the body, which can negatively impact blood flow and blood sugar levels. The cells cannot release the glucose, creating a buildup of glycogen in the cells and a decrease in blood sugar levels because glucose is not entering into the body as it should. Individuals with GSD can also have acidosis because their cells are releasing more uric acid into the blood because of the glucose deficiency in the blood. Individuals with GSD now have the inability to neutralize the acid with the bases.