Glycogen storage disease in infants -
It is most often seen in babies or young children. But some forms of GSD may appear in adults. Experts know of at least 9 types of GSD. They are grouped by the enzyme that is missing in each one. Each GSD has its own symptoms and needs different treatment.
Type I or von Gierke disease. This is the most common form of GSD. Glycogen builds up in the liver. Symptoms often appear in babies around 3 to 4 months old. They may include low blood sugar hypoglycemia and a swollen belly because of an enlarged liver.
Type III or Cori disease. It collects in the liver and in muscle tissues. Symptoms include a swollen belly, delayed growth, and weak muscles. Type IV or Andersen disease. People with type IV form abnormal glycogen. This creates scarring cirrhosis of the liver and other organs, such as muscle and the heart.
People with type IV disease may develop liver failure at a young age or develop heart failure. It happens because both parents have an abnormal gene gene mutation that affects a specific way that glycogen is stored or used.
Most GSDs occur because both parents pass on the same abnormal gene to their children. Glycogen storage disease is passed down from parents to children inherited.
Someone is more at risk for GSD if they have a family member with the disease. With many types of GSD, symptoms first appear in babies or in very young children. Symptoms will vary based on the type of GSD a child has and which enzyme they are missing.
Because GSD most often affects the muscles and the liver, those areas show the most symptoms. The symptoms of GSD may look like other health problems.
Some types of GSD can appear in adults. See your healthcare provider if you think you may have GSD. The provider will do a physical exam to check for symptoms such as an enlarged liver or weak muscles. The sample will be taken to a lab. It will be tested to see how much of a certain enzyme is in that part of the body.
Genetic testing may also be sent to confirm the subtype diagnosis. If you are pregnant and concerned about GSD, your healthcare provider may do some tests before your baby is born prenatal tests to check for GSD.
Frequent feedings may be needed to prevent low blood sugar. In some cases, your child may need overnight feeding via a nasogastric tube. Your child may also have to take certain medicines.
For other types of GSD, your child may need to limit exercise to avoid muscle cramps. They may need to have a medical treatment to replace the enzyme that is missing enzyme replacement therapy. Glycogen buildup can hurt the liver, the heart, the neurologic system, and muscles.
This can create other problems if your child has certain types of GSD, such as:. Type I. This can cause arthritis, dental problems, inflammatory bowel disease, recurring infections, and harmless benign tumors in the liver.
Type III. This can cause harmless benign tumors in the liver. Slow growth and muscle weakness are also common with this type of glycogen storage disease.
Type IV. Over time, this can cause scarring cirrhosis of the liver. This disease leads to liver failure. Severe illness may lead to liver cirrhosis and cardiomyopathy. These may need supportive treatment as the symptoms get worse.
Your child may need a liver transplant if they have severe liver disease. There is no way to prevent glycogen storage disease. But early treatment can help control symptoms once a child has GSD. If you or your partner have GSD, or a family history of this disease, see a genetic counselor before you get pregnant.
The glycogen storage diseases that mainly affect muscles are types V and VII. Type II affects nearly all organs, including the heart. Glycogen storage diseases are caused by a genetic enzyme defect that is inherited from both parents.
Normally, enzymes help convert glucose into glycogen for storage. 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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It is Hydration during breastfeeding inherited disorder that affects the metabolism — Lean muscle definition way the body breaks food sforage into energy. After we eat, excess glucose is stored storabe Lean muscle definition liver Gljcogen glycogen to fisease Delicious Orange Smoothies glucose levels in our body. In GSD I, the enzyme needed to release glucose from glycogen is missing. When this occurs, a person cannot maintain his or her blood glucose levels and will develop hypoglycemia low blood sugar within a few hours after eating. The low levels of glucose in the blood of these individuals often result in chronic hunger, fatigue, and irritability. These symptoms are especially noticeable in infants. Coronavirus COVID : Glycogeen Glycogen storage disease in infants Visitation Policies Visitation Disewse Visitation Policies Visitation Policies Visitation Policies COVID Testing Vaccine Information Vaccine Information Glycogen storage disease in infants HbAc control. Glycogen storage disease GSD is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose.
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