autoimmune Myasthenia Glycogeen Lambert—Eaton myasthenic syndrome Neuromyotonia Brain health and neurofeedback myasthenic syndrome. There is ongoing research to use ERT with other forms of GSDs. These symptoms are especially noticeable in infants.

Glycogen storage disease type -

Other enzymes convert the glycogen back to glucose when quick energy is needed, as in exercise. In a person with a glycogen storage diseases, some of these enzymes are defective, deficient, or absent.

Since glycogen storage diseases are hereditary, the primary risk factor for is having a family member with this disease. Glycogen storage disease symptoms in pediatric patients depend on its type.

The following is a list of common glycogen storage disease symptoms:. Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms. If your child's doctor suspects a glycogen storage diseases, he or she will ask about your child's symptoms and medical history, then perform a physical exam.

The doctor will perform tests to rule out or confirm the diagnosis. These tests may include:. Glycogen storage disease treatment will depend on the type of disease and the symptoms.

The following general treatment guidelines apply to people who have glycogen storage diseases that affect the liver, or types I, III, IV, and VI. Your child's doctor will develop a treatment regimen based on your child's specific symptoms. This next group of glycogen storage disease treatment guidelines applies to people who have glycogen storage diseases that affect the muscles, or types V and VII.

This is done by:. There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it. If you have a glycogen storage disease or a family history of the disorder, you can talk to a genetic counselor when deciding to have children.

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Children's Hospital is part of the UPMC family. UPMC Website UPMC's Story. Our Sites. Liver Disease States. Liver Transplant. Glycogen Storage Diseases GSD in Children What Is Glycogen Storage Disease? Types of Glycogen Storage Disease The main types of glycogen storage diseases in children are categorized by number and name.

Treatment will vary depending on what type of GSD your child has; however, the overall goal is to maintain the proper level of glucose in the blood so cells have the fuel they need to prevent long-term complications.

Until the early s, children with GSDs had few treatment options and none were very helpful. Then it was discovered that ingesting uncooked cornstarch regularly throughout the day helped these children maintain a steady, safe glucose level.

Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it acts as a slow release carbohydrate and maintains normal blood glucose levels for a longer period of time than most carbohydrates in food.

Cornstarch therapy is combined with frequent meals eating every two to four hours of a diet that restricts sucrose table sugar , fructose sugar found in fruits and lactose only for those with GSD I. Typically, this means no fruit, juice, milk or sweets cookies, cakes, candy, ice cream, etc.

because these sugars end up as glycogen trapped in the liver. Infants need to be fed every two hours. Those who are not breastfed must take lactose-free formula.

Some types of GSD require a high-protein diet. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. Children need their blood glucose tested frequently throughout the day to make sure they are not hypoglycemic, which can be dangerous.

Some children, especially infants, may require overnight feeds to maintain safe blood glucose levels. For these children, a gastrostomy tube, often called a g-tube, is placed in the stomach to make overnight feedings via a continuous pump easier. The outlook depends on the type of GSD and the organs affected.

With recent advancements in therapy, treatment is effective in managing the types of glycogen storage disease that affect the liver. Children may have an enlarged liver, but as they grow and the liver has more room, their prominent abdomen will be less noticeable.

Other complications include benign noncancerous tumors in the liver, scarring cirrhosis of the liver and, if lipid levels remain high, the formation of fatty skin growths called xanthomas.

To manage complications, children with GSD should been seen by a doctor who understands GSDs every three to six months. Blood work is needed every six months. Once a year, they need a kidney and liver ultrasound.

Research into enzyme replacement therapy and gene therapy is promising and may improve the outlook for the future. CHOP will be a site for upcoming gene therapy clinical trials for types I and III. The GSD Clinic will have more information.

Glycogen Storage Disease GSD. Contact Us Online. Glycogen storage disorders occur in about one in 20, to 25, newborn babies. Manifestations of GSD often look like other health problems and may include: poor growth low blood glucose level hypoglycemia an enlarged liver may show as a bulging abdomen abnormal blood tests low muscle tone muscle pain and cramping during exercise too much acid in the blood acidosis fatigue A thorough medical history can also lead the doctor to suspect GSD since it is inherited.

Other diagnostic tests may include: blood tests to check blood glucose levels and how the liver, kidneys and muscles are functioning abdominal ultrasound to see if the liver is enlarged tissue biopsy to test a sample of tissue from muscle or liver to measure the level of glycogen or enzymes genetic testing, which can confirm a GSD.

Children may be prescribed medicines to manage side effects of GSD. These include: Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years in patients with GSD I.

Thank you for visiting nature. Turmeric for detoxification are using a browser version with limited Glycogen storage disease type for CSS. To obtain the best lGycogen, we recommend you use a more up Stprage date browser or turn off compatibility storgae in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. An Erratum to this article was published on 01 September Purpose: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Tpye on the Glydogen of GSD a child has, glycogen may build up in the liver, in Muscle recovery for rowers muscles, or both. Glycogen storage disease type storagge Turmeric for detoxification affect blood sttorage, the heart, stoage, and other organs. Normally, glycogen is stored in the liver until the body needs energy. Then, enzymes convert glycogen into glucose so that it can travel through the bloodstream to cells that need fuel. Every cell in the body contains enzymes, but children with GSD lack one of the enzymes responsible for making glycogen or converting glycogen to glucose. GSD is a rare condition.