Abstract
There are concerns over the causes, prevention, and treatment of Glycogen Storage Disease. However, several studies indicate that there is no specific treatment of GSD because the disease is inheritable. This explains why diet therapy is considered to be a suitable approach to the prevention of GSD. In most of the cases, patients adhering meticulously to dietary regimen have been found to experience a reduction in the size of their livers, as well as enhance prevention of hypoglycemia. Such an approach is often aimed at reduced symptoms of GSD and the enhancement of growth and development of affected children.
Nature of Glycogen Storage Disease
Glucose plays a significant role in the human body. For this reason, the absence of glucose, as well as an increase in its level has adverse effects on the functionality of various body organs (Decostre et al., 2016). One of the diseases associated with changes in the level of glucose is Glycogen Storage Disease (GSD). Glycogen Storage Disease can be described as a group of metabolic disorders that can be inherited (Koeberl, Kishnani, & Chen, 2007). The disease often occurs in the form of stored excess glycogen that results whenever an individual lacks the enzymes to release glucose from glycogen. An individual suffering from Glycogen Storage Disease has high levels of stored energy due to unbroken glycogen. There are several types of GSDs, such as Glycogen I, II, and GSD III among others.
Causes of Glycogen Storage Disease
GSD is caused by the absence of any of the enzymes used in the change of glycogen to glucose at various stages (Koeberl, Kishnani, & Chen, 2007). Lack of such enzyme leads to the stoppage of the entire process and consequently results in the accumulation of glycogen in the body (Bendroth-Asmussen, Aksglaede, Gernow, & Lund, 2016). The defect in enzymes used in the breakdown of glycogen results in systematic problems in the body. Nevertheless, such condition affects various tissues, with most patients experiencing muscle symptoms characteristic of cramps and weakness. In most cases, the Glycogen Storage Disease is inherited from parents to their children.
Signs and Symptoms of Glycogen Storage Disease
Since different enzymes can miss during different stages of the breakdown of glycogen, the expected symptoms of Glycogen Storage Disease vary. In most cases, GSD affects the liver and body muscles (Koeberl, Kishnani, & Chen, 2007). Some of the common symptoms include swollen bell, enlarged liver, low blood sugar, muscle cramps, poor growth, as well as an abnormal blood test.
Nevertheless, a review of the GSD trends indicates that the start and severity of the symptoms of Glycogen Storage Disease are determined by the specific type of GSD that a given individual is suffering from (Maimaiti et al., 2009). For example, young children who have GSD I are unlikely to suffer from liver disease though they are at a high risk of developing liver tumors.
The GSD III is considered to be a mild version of Glycogen Storage Disease I, and rarely leads to failure of the liver. Despite this, GSD III has a high probability of causing fibrosis. On the other hand, GSD II is considered to be a muscle disease and hence, does not affect the liver (Koeberl, Kishnani, & Chen, 2007). However, GSD IV leads to cirrhosis and at times can affect the functioning of the heart triggering a heart attack, as well as muscle dysfunction. For example, children who have GSD IV at birth are more likely to experience enlarging of the liver, and later at the age of between 3 and 5 years, develop cirrhosis.
List of Laboratory Tests
Several tests can be carried out in the laboratory for the diagnosis of Glycogen Storage Disease. These tests are dependent on the probable type of Glycogen Storage Disease. Some of these tests are listed below.
- Liver biopsy.
- Muscle biopsy.
- DNA testing.
- Carrier testing.
- Prenatal testing.
Use of Periodic Acid Schiff in the Diagnose of GSD
The Periodic Acid-Schiff (PAS) refers to a staining procedure that is applicable in the detection of many substances like glycolipids and glycoproteins, and polysaccharides like the glycogen. Often, the periodic acid plays a significant role in the diagnosis of Glycogen Storage Disease in that it enhances the oxidation of the vicinal diols present in glycogen breaking any bond present (Maimaiti et al., 2009). After, the bonds of the sugars are broken down the resultant aldehydes are used in the reaction with Schiff reagent. As such, the detection of the presence of glycogen in a sample can be identified through the appearance of a purple-magenta color, which results from the reaction between the Schiff reagent and the aldehydes following the breakdown of the glycogen sugars by the periodic acid.
However, the efficiency of the Periodic Acid Schiff is enhanced through the use of a PAS diastase stain that combines with diastase to effect glycogen breakdown. Often, the use of the PAS reaction is significant in the diagnosis of Glycogen Storage Disease in that it provides the background of making any necessary therapeutic decisions, especially in the demonstration of mucopolysaccharides such as the glycogen.
Prevention and Treatment of Glycogen Storage Disease
The process of creating, as well as preventing glycogen storage disease is influenced by the particular type of GSD that a given individual is suffering from. The diagnosis of the Glycogen Storage Disease in any individual ought to be based on the history of the patient, and physical examination carried out before, levels of creatine kinase, ischemic forearm test, electromyography, as well as muscle biopsy. Research and analysis have shown that it is extremely hard to treat some types of Glycogen Storage Disease (Ihara, Kuromaru, Fukushige, & Hara, 2007). However, other causes can be fairly controlled through the treatment of the symptoms and the change of dietary practices (Maile et al., 2016). For this reason, it is advisable for patients suffering from treatable GSD to adopt a unique diet as outlined below.
All meals should have high carbohydrate content during the day. The intake of carbohydrate-rich meals is important for preventing the drop in sugar levels in the body.
Secondly, it is advisable to give uncooked cornstarch to young children suffering from Glycogen Storage Disease between four and six hours, both day and night. The role of uncooked cornstarch in the body is to ensure low levels of blood sugar in the body.
There are cases whereby the maintenance of low glucose levels can be a problem for some children at young. In such cases, special tubes need to be inserted in the affected child’s stomach to ensure continuous feeding during the night. The tube ensures the right amount of glucose is available in the body and hence, keeps the level of blood sugar as low as possible.
Any individual suffering from Glycogen Storage Disease is like to experience high levels of uric acid, which is a waste product from foods. Increased accumulation of uric acid in the body results in cases of painful inflammation experienced at various body joints, as well as kidney stones. The development of such conditions requires careful medication.
References
Bendroth-Asmussen, L., Aksglaede, L., Gernow, A., & Lund, A. (2016). Glycogen Storage Disease Type IV. International Journal of Gynecological Pathology, 35(1), 38-40.
Decostre, V., Laforêt, P., Nadaj-Pakleza, A., De Antonio, M., Leveugle, S., Ollivier, G.,… Hogrel, J. (2016). Cross-sectional retrospective study of muscle functions in patients with glycogen storage disease type III. Neuromuscular Disorders, 26(9), 584-592.
Ihara, K., Kuromaru, R., Fukushige, J., & Hara, T. (2007). Prevention of hypoglycaemia in a patient with type Ib glycogen storage disease by an amylase (α-glucosidase) inhibitor. Acta Paediatrica, 87(5), 595-598.
Koeberl, D., Kishnani, P., & Chen, Y. (2007). Glycogen storage disease types I and II: Treatment updates. Journal Of Inherited Metabolic Disease, 30(2), 159-164.
Maile, C., Hingst, J., Mahalingan, K., O’Reilly, A., Cleasby, M., Mickelson, J.,… Piercy, R. (2016). A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. Biochimica Et Biophysica Acta (BBA) – General Subjects, 3(2), 19-64
Maimaiti, M., Takahashi, S., Okajima, K., Suzuki, N., Ohinata, J., Araki, A.,… Fujienda, K. (2009). Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. Journal Of Human Genetics, 54(8), 493-496.