Glycogen storage disease type III

Glycogen storage disease type 3 (GSDIII) is a lifelong condition. Your child will not grow out of GSDIII, so it is important to teach them how to manage their diet and stay healthy. The health problems associated with GSD III can change over time. As a child grows, the liver problems can get better. However, in adulthood a person with GSD III may experience issues with the muscles including the heart. It is important that people with GSD III continue to be followed throughout life by a doctor to make sure the condition is being managed correctly.

If your child has glycogen storage disease type 3 (GSD III), it is likely you and your partner are carriers for GSD III. Carriers are people who do not have GSD III health problems themselves, but can pass on genetic changes which cause GSD III. Your siblings may also be carriers for GSD III. They can speak to a genetic counselor about their chances of having a child with GSD III.To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

If you and your partner have additional children, there is a 1 in 4 or 25% chance that child could have GSD III. Additional children should be evaluated by your main doctor or a genetic specialist to evaluate for GSD III.

Thousands of Americans have glycogen storage disease type 3. You can connect with other people affected by this disorder online through glycogen storage disease support groups like GSD Life or Association for Glycogen storage disease, your local metabolic center or social media website such as Facebook.

The Association for glycogen storage disease has detailed information about glycogen storage disease type III (GSD III). Also a genetic counselor can help to answer any other questions you may have about GSD III. To find a genetic counselor near you, go to the national society of genetic counselor’s website.

The following are some support groups for glycogen storage disease type 3:

Babies with glycogens storage disease type III are often born healthy at birth and may not have any signs or symptoms of the condition. In some people symptoms may not start until early childhood; however, other people can have symptoms as early as 3 or 4 months old, as babies begin to get less frequent feedings. The first signs are often an enlarged liver and low blood sugar. Lab studies may also show abnormally high levels of liver enzymes.

By puberty the liver tends to shrink in size and become less of a concern. In adolescence and young adulthood, many people experience muscle weakness and a type of heart condition known as hypertrophic cardiomyopathy, when the heart muscle becomes unusually thick. Many people with thick heart muscles have no symptoms and no medical issues but should be followed closely by a heart doctor. In some people, dietary changes can improve the heart thickness.

Your child will need to follow a strict diet high in protein and low in sugars. Your child may also need nutritional supplements such as uncooked cornstarch or feeding tube. A dietician or nutritionist will help you and your child develop a personalized diet to make sure your child is getting all the nutrients they need. It is important to follow the diet that is provided so that you child can grow healthy and strong.

If your child has glycogen storage disease type 3, they should get regular checkups with a pediatric metabolic specialist and a nutritionist or dietician. Children with glycogen storage disease type 3 should also have regular examinations of their liver and heart, as well as annual bloodwork. You may be referred to other specialists depending on your child’s symptoms. It is also important your child continues to be seen by a pediatrician or family doctor as well. If your child becomes ill, emergency care may be necessary.

Glycogen storage disease type 3 is usually abbreviated as GSD III. The initials GSD can refer to any glycogen storage disease, so always look for the roman numerals following GSD to identify which type is being used in an article, webpage, or other document.

The outcome for children with glycogen storage disease III (GSD III) varies and usually depends on how a child is managed. Children with GSD III who follow a strict diet and have close care when ill usually have good growth and development. When treated well over time, GSD III does not affect your child’s intellectual or developmental abilities. However, children and babies who do not receive prompt treatment and control of the diet almost always have developmental disabilities and may have a shorter lifespan from the health problems.

People with GSD IIIa may also have heart problems that can start in childhood or adolescence. It will be important for a child with GSD IIIa to also be followed by a heart doctor also called a cardiologist.

The liver problems in GSD III typically get better over time. The most common liver problem in GSD III is an enlarged liver (hepatomegaly). However, in a small amount of people with GSD III the liver problems may worsen and may result in a liver transplant.

It is important that children with GSD III are followed closely throughout life by a genetic or metabolic doctor. Genetics and metabolic doctors in your area can be found by talking with your child’s pediatrician or family doctor or by using the Find A Genetic Service tool at the American College of Medical Genetics.

Glycogen storage disease type III, or GSD III, is a genetic condition where your body cannot break down glycogen into glucose for energy. Typically, our bodies store extra energy from our food as glycogen. In between meals (also called fasting), our bodies turn the glycogen into glucose to give us energy. People with GSD III have a genetic change which makes their bodies unable to turn stored glycogen into glucose. Instead of acting as a source of energy between meals, the glycogen builds up in the liver and/or muscles and causes the signs and symptoms of glycogen storage disease type III.

GSD III is one of many types of glycogen storage diseases. Each one has a unique genetic cause and affects the body in different ways. The group of conditions all involve the build up of glycogen in our bodies leading to health problems. Specifically, people with glycogen storage disease type III may have low blood sugar, seizures, delayed growth and enlarged organs if not treated. Initially people with GSD III have low blood sugar. The best person to evaluate whether the cause of the low blood sugar is a glycogen storage disease is a pediatric metabolic or genetic specialist. Genetics and metabolic doctors in your area can be found by talking with your child’s pediatrician or family doctor or by using the Find A Genetic Service tool at the American College of Medical Genetics.

People with glycogen storage disease type III (GSD III) cannot break down glycogen stored in the liver and muscles. In babies healthy at birth and may not have any signs or symptoms of the condition. The first signs are often an enlarged liver and low blood sugar. Lab studies may also show abnormally high levels of liver enzymes.

While the liver size typically shrinks over time, some people with GSD III get non-cancerous (benign) tumors on their liver. In some people, the liver problems can progress throughout life and may require a liver transplant.

As people with GSD III get older many of them experience muscle weakness. In childhood, many people with GSD III can develop a condition called hypertrophic cardiomyopathy. This is a condition where the heart muscles become unusually thick. Usually, the cardiomyopathy does not cause any symptoms or lasting health problems for people with GSD III. Occasionally, this finding can result in the heart not functioning as well as it does normally.

All people with GSD III regardless of symptoms should get regular examinations of their liver, heart and blood to monitor for any problems. In order to learn whether a health problem is related to GSD III or not, people can ask the main doctor or genetic doctor who best understands their health issues.

Changes in the AGL gene cause glycogen storage disease type III (GSD III). Typically, this gene tells our body how to break down glycogen into glucose, so it can be used as energy in between meals (also called fasting). When there is a change in this gene, our body cannot effectively turn glycogen into glucose. This causes our body to have less energy than it needs. Also since the glycogen is not being used, it instead builds up in the liver and muscle cells. This leads to the signs and symptoms of GSD III.

Glycogen storage disease type III (GSD III) typically presents with liver problems first. In babies, the liver may be enlarged and lab studies to look at liver function may be abnormal. If GSD III is not treated, babies can have low blood sugar, enlarged liver, muscle weakness, delayed growth and development, sleepiness and irritability. If a baby is not treated properly when symptoms develop, these symptoms can progress to seizures, coma or even death. Symptoms usually improve with frequent feeding (every 3-4 hours) and avoidance of becoming ill. When a person with GSD III becomes ill, close medical monitoring is needed to ensure that symptoms do not get worse and that the person is safe.

During adolescence, the liver tends to shrink and liver problems may become milder. Many people with GSD IIIa subtype, may also experience muscle weakness in adolescence and adulthood. Because the heart is a muscle, GSD III can also result in weakness of the heart muscle (hypertrophic cardiomyopathy) that may need to be followed closely by a specialist.

If your child with GSD III is experiencing any symptoms of low blood sugar or is sick with a fever, vomiting or diarrhea, consult with your main doctor or genetic/metabolic doctor. It may be important for your child to get emergency treatment.

There are two different forms of glycogen storage disease type III (GSD III), based on differences in their symptoms. Both of the types of GSD III are caused by the same gene changes

Children with glycogen storage disease type 3 (GSD III) need to carefully control what goes in to their body. There are certain medications that are usually avoided in people with GSD III such as steroids and certain hormones to make a person grow (growth hormone). Other medications may be used only if truly necessary. Before taking any medication, check with your child’s doctor and/or their metabolic dietitian to make sure the medication is safe for them to take.

There are several tests that a doctor can order to test for Glycogen storage disease, type III, (GSD III). There are three main findings that raise suspicion of GSD III., These include a enlarged liver, low blood sugar and abnormal blood tests of certain markers for the liver and muscles. Blood tests can look at how well the liver is working to help give clues to the doctor about the diagnosis. Also a doctor may order a study to measure blood sugar in between meals (fasting) to look for clues of GSD III. To confirm a diagnosis, a doctor may also order a blood test to look at the genetic material. Changes in the AGL gene result in the signs and symptoms of GSD III. If you are concerned your child may have GSD III, it is important to discuss the best testing method with your main doctor.

Glycogen storage disease type 3 (GSD III) is not on the newborn screen that is performed for every child after birth. However, a newborn can be tested for GSD III through a blood test looking for genetic changes in the AGL gene. Your doctor can order testing for GSD III if you have a family history of GSD III, if you and your partner are known to be carriers for GSD III or if your child begins showing symptoms of GSD III.

As of May 2016, there are 8 clinical trials in the U.S. recruiting people with glycogen storage disease type 3. Not every person with GSD III can participate in the trials. If you would like more information about whether a clinical trial is right for you or your child, ask your doctor or check the clinical trials website.

People with glycogen storage disease type 3 (GSD III) cannot turn glycogen into glucose for energy in between meals. Instead of providing energy, the glycogen can build up in the liver and muscles, causing low blood sugar, seizures, lethargy and muscle weakness if left untreated. The treatment for GSDIII is to work with metabolic dieticians and your pediatrician to give your child a high-protein diet and to make sure your child eats every 2-4 hours. A nutritionist or dietician can work with you to develop a healthy diet for your child. Many children with GSD III take extra vitamins such as calcium supplements or a multivitamin. Your medical team may also recommend your child get a feeding tube /or eat a mixture of cornstarch and water to make sure they have enough energy in their body throughout the night. Children with GSD III who follow a strict diet have healthy lives and normal development; however, extra care is needed when they are sick. People with GSD III also need to get routine examinations of their liver and heart.

Currently there is no cure for glycogen storage disease type 3. However, children who follow a strict diet generally grow healthy and well. Even if people with GSD III follow a strict diet, other health problems can develop later in life such as muscle weakness or heart issues. Therefore, people with GSD III will need to be followed closely by doctors throughout their lifetime.

Glycogen storage disease type III is more common in the North African Jewsish population and people of Faroese descent. Boys and girls are equally likely to have glycogen storage disease type 3. In order to learn more about you or your family’s risks for GSD III, you can discuss your family history and background with your main doctor or a genetic doctor.

Your child will have regular visits to the pediatrician and metabolic specialist as well as regular liver and heart exams. The doctor will review your child’s diet with you and may take blood or urine samples to check blood sugar levels. The doctor will also conduct a physical and developmental exam, to make sure your child is growing healthy and well.

Your pediatrician needs to work with a metabolic dietitian and a pediatric metabolic specialist to take care of your child. If there are no pediatric metabolic specialists in your area, you will need to work closely pediatrician to help them become informed about your child’s diagnosis and connect with a metabolic specialist for consultation. Your doctor should know about your child’s diet and any concerns you may have about their development. If your child has vomiting, lethargy, unexplained muscle weakness, sweating or shakiness for more than 12 hours, contact your pediatrician immediately as they will need careful management of their illness to avoid more serious health problems.

Yes. Having glycogen storage disease type III (GSD III) does not impact a persons ability to have children, but women with GSD III should have extra monitoring and examinations throughout the pregnancy. People with GSD III can have children who also have GSD III and children who do not have GSD III but who are carriers for the condition. Carriers are typically healthy and do not have the signs and symptoms of GSD III. If you have GSD III and are considering having children, speak with your doctor or genetic counselor about your chances of having a child with GSD III. Some people with GSD III may consider testing before or during a pregnancy for GSD III.

It is important that children with glycogen storage disease type 3 (GSD 3) have frequent feedings. They should eat every 3-4 hours throughout the day and night. Your doctor and dietician can help devise a feeding plan for your child. Some children with feeding difficulties may get a feeding tube to help make sure they get regular, nutritional feedings. Uncooked cornstarch may also be used to help keep your child’s blood sugar in the normal range after the first year of life. Discuss what feeding plan is right for your child with your metabolic dietician.

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder. This means people with GSD III have genetic changes on both copies of their AGL gene. If you have a child with GSD III, that means both you and your partner are “carriers” for this condition. Carriers of a genetic condition do not have GSD III themselves, but can pass it on to their children. When two carriers of GSD III have children, there is a 1 in 4, or 25% chance for each pregnancy to have GSD III, and a 3 in 4, or 75% chance the child will not have GSD III. Speaking with a genetic counselor, a health professional who specializes in genetic conditions, can help people to understand the chance to have a child with GSD III. To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

Glycogen storage disease type 3 (GSD III) can be diagnosed with blood tests to look a certain markers of the liver and muscle that are usually increased in people with GSD III. Genetic testing may also be performed to diagnose GSD III. In some cases, a liver biopsy which is a sample of liver tissue is performed to look for changes in the liver that can diagnose GSD III. If you are concerned your child may have GSD III discuss this with your main doctor or genetic specialist who may order tests to give a diagnosis of GSD III.

Your pediatrician can help you find a center with experience treating children with glycogen storage disease type 3 and other metabolic disorders. For care and support surrounding the dietary management of GSD, another option is to contact the Genetic Metabolic Dietitians International (GMDI).

Glycogen storage disease type III (GSD III) affects approximately 1 in every 100,000 people in the United States. It is more common in the North African Jewish and Faroese populations, where it affects approximately 1 in every 3,000 to 5,000 people. In order to learn more about you or your family’s risks for GSD III, you can discuss your family history and background with your main doctor or a genetic counselor.

A carrier of a genetic condition like glycogen storage disease type III (GSD III) do not have any medical problems or symptoms of GSD III. Carriers have one copy of the AGL gene which does not have any changes (normal copy) and one copy of the AGL gene with a change called a mutation. Because carriers have one normal copy of the gene, they are healthy and do not have any of the medical issues associated with GSD III. This can make it difficult to find out a person is a carrier for GSD III without doing a blood test to look for gene changes in the AGL gene. If you have a family history of GSD III or are of Faroese or North African Jewish descent, your doctor or genetic counselor can order a blood test to see if you are a carrier of GSD III.

While every insurance company’s policy is different, almost all insurances have at least some coverage for diagnostic testing if you have a family history or if your child is showing signs of glycogen storage disease type III. Sometimes a doctor must write a ‘letter of medical necessity’ that explains to the insurance company the importance of the testing. If you have questions about your coverage, check with your insurance provider.

There are several things that can make the symptoms of glycogen storage disease type III worse. Because the body cannot breakdown glycogen, eating large quantities of sugar can make the symptoms worse. The body is not able to get rid of the extra sugar and so it builds up in the organs like the liver and heart and also in the muscles.

Also people with GSD III should eat regularly. If a person with GSD III skips meals or waits a long time between meals, the body is unable to refuel the energy. This can result in low blood sugars. To help with low blood sugars, people with GSD III often supplement meals with uncooked cornstarch. The cornstarch helps to keep the body’s blood sugar at normal levels.

Certain medications can also cause the symptoms of GSD III to get worse. For example, steriods and growth hormones should be avoided. For a complete list of medications that people with GSD III should avoid, talk with your child’s main doctor or genetic doctor.

It is possible to test a pregnancy for glycogen storage disease type III (GSD III) by amniocentesis or chorionic villus sampling (CVS). Amniocentesis uses a needle guided by ultrasound to find a pocket of fluid away from the baby to take some cells for examination. CVS uses a similar approach to sample cells of the placenta. Looking at the genetic information in these cells will allow the laboratory to determine if the pregnancy has glycogen storage disease type 3 by identifying the known genetic changes. If you and your partner are carriers for GSD III and would like to consider testing a pregnancy, speaking with a doctor or genetic counselor about the benefits and limitations of this procedure is important. If you would like to do testing while you are pregnant it is important that you talk to your doctor about it as soon as you know you are pregnant. To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

Glycogen storage disease type III is a genetic condition. Therefore, only changes in the AGL gene cause glycogen storage disease type III. Gene changes can be inherited or passed through a family. Gene changes are not caused by the environment such as sicknesses, food/drink, or the weather. People cannot cause gene changes to happen. If you would like to discuss genes or gene changes in more detail, you can meet with a genetic counselor ( a trained professional in genes and genetic conditions). To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

Glycogen storage disease type III (GSD III or GSD 3) has many other names. See the list of other names for GSD III below. To learn if there is another name for GSD III a doctor might use, ask them if they are using another term for glycogen storage disease, type III or look on a reliable website such as Genetics Home Reference

Glycogen storage disease type III (GSD III) is a type of glycogen storage disease. People with glycogen storage diseases are unable to use or store glycogen. Instead of providing energy between meals, the glycogen builds up and causes problems throughout the body. The health problems seen in GSD III can look like those seen in some other glycogen storage diseases. Each type of GSD is caused by changes in different genes. Only changes in the AGL gene cause GSD III.

Also, there are three main findings (enlarged liver, low blood sugar and high liver enzymes) that are seen in GSD III, that can make it look different from other types of GSDs. Certain blood tests, such as a genetic test, may help determine if a person has GSD III. The best person to help figure out if someone is having symptoms of GSD III or another type of glycogen storage disease is a genetic or metabolic doctor, a doctor specially trained to diagnose and treat genetic conditions and related conditions of the metabolic (energy-making) system. Genetic doctors in an area can be found by talking to another doctor about who they would recommend or by using the "Find A Genetic Service" tool at the American College of Medical Genetics.