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Madisons Foundation - Moms And Dads In Search Of Needed Support
Glycogen Storage Disease Type 1a (GSD 1)
Von Gierke Disease
Sunday, 20 July 2003
Last Updated Wednesday, 27 July 2005
What
Von Gierke disease, also known as glycogen storage disease type 1a (GSD 1), is a member of a family of metabolic diseases where the body is unable to use its own sugar stores. In the case of GSD 1, the body is missing an enzyme known as glucose-6-phosphatase which breaks down stored sugar into sugar which you can use for energy, and as a result, these patients tend to have low blood sugar (hypoglycemia). Hypoglycemia may cause symptoms ranging from weakness and irritability to seizures, coma and death.Who
GSD 1 occurs in about 1 out of every 50,000 births. Both males and females are equally affected.Signs and Symptoms
The main signs and symptoms of GSD 1 are related to the low blood sugar levels (hypoglycemia). This can cause muscle twitching or tremors, general muscle weakness and poor muscle tone, irritability, headaches, hunger, fatigue, low body temperature (hypothermia), and if uncontrolled, seizures and coma. Other physical findings are cyanosis (a bluish or purplish color of the skin due to a lack of oxygen in the blood), apnea (a brief period of time when breathing stops), nose bleeds, bruises, an enlarged liver caused by deposits of fat and sugar (glycogen) and a swollen abdomen. They tend to have delayed growth and enter puberty later than peers. Gout (painful swelling of the joints due to mineral deposits) may occur as the child becomes an adult. They may also develop high levels of blood cholesterol or triglycerides.Possible Causes
Every cell in our body contains genetic material known as chromosomes, which control development and functioning. The cause of GSD 1 has been found on chromosome 17. Changes in this portion of the chromosome (gene) cause GSD 1. GSD 1 is an autosomal recessive disorder. This means that each parent has one affected gene on chromosome 17 and one normal gene. Because each parent has one normal gene, they themselves do not have GSD 1. However, when the child receives one abnormal gene from the mother and one abnormal gene from the father, he/she has two affected genes on chromosome 17. When a person has two abnormal genes, they are affected with GSD 1. After a meal is eaten, the sugars from the food are released into the bloodstream in the form of glucose, which is what the body uses for energy. The body uses whatever glucose it needs at that time and then stores the remainder in the liver in a form called glycogen. The glycogen then waits for a signal from the body to be released as glucose in times when energy is needed. This release is assisted by glucose-6-phosphatase, which is why patients with GSD 1 cannot use their stores. If they are unable to break down the stored sugar into usable sugar, their blood sugar level will continue to drop, and they may develop some of the above symptoms.Diagnosis
GSD 1 may be suspected in a patient with symptoms of hypoglycemia. The diagnosis can be confirmed by genetic testing to look for the abnormality on chromosome 17. Sometimes the patients may need a biopsy of the liver to look for lack of the enzyme, glucose-6-phosphatase.Treatment
The main goal of treatment is to prevent low blood sugar. Children need to eat small amounts of food frequently to give their body a fairly constant source of glucose. It is important not to eat too many carbohydrates as they are converted to the stored glycogen and will build up in the liver. Some children need feedings at night with cornstarch to supply the body with a constant release of sugar during sleep. This is done using a nasogastric tube, a flexible tube that runs from the nose to the stomach. Patients may also get additional sugar by drinking cornstarch mixed with water before bedtime. Children with GSD 1 have to be kept on a strict diet. The child can eat normal amounts of protein and vegetables, but the meals should be low in fat, eaten frequently in small amounts and contain starchy items such as rice, pasta and breads (complex carbohydrates). The child should not eat sweets/candy, fruits, or dairy products as the sugars found in these products tend to be more easily stored as glycogen. Later in life, there is a risk of kidney problems, so kidney function and blood pressure needs to be monitored carefully and treated if necessary. Also, patients with GSD 1 have an increased risk of both benign (non-cancerous) and malignant (cancerous) growths in the liver. To identify these growths early if they occur, patients should have an ultrasound of the liver done at least once per year. It is also important to monitor for complications such as high triglyceride/cholesterol levels and gout.Prognosis
GSD 1 is a lifelong disease, so patients will constantly be on a strict diet. If the diet and blood glucose levels are monitored and controlled properly, the child can live a healthy life. Some of the complications may be related to how carefully the glucose levels are controlled, so strict attention to the diet is important.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Association of Glycogen Storage Disease
The main website for the Association of Glycogen Storage Disease. It has information for families wanting to know more about this disorder and other disorders in the glycogen storage disease family, as well as helpful links, an email mailing list, and information on how to join the organization.
CLIMB
CLIMB (Children Living with Inherited Metabolic Disorders) is a great website for families. It provides information about ongoing research and many different opportunities for creating support networks for children and parents affected by the disease.
The Children s fund for GSD research
The Children s fund for GSD research is committed to funding research on this disorder.