Glycogen storage disease 1a

Glycogen storage disease type 1a is a lifelong condition. Your child will not grow out of glycogen storage disease type 1a, so it is important to teach them how to manage their diet and stay healthy.

If your child has glycogen storage disease type 1a (GSD1a), it is likely you and your partner are “carriers” for GSD1a. Carriers have a genetic change on just one copy of their G6PC gene. They do not have GSD1a themselves, but can pass it on to their children. Your siblings may also be carriers for GSD1a. They can speak to a genetic counselor about their chances of having a child with glycogen storage disease type 1a and how to have carrier testing done.

Thousands of Americans have glycogen storage disease. You can connect with other people affected by this disorder online through glycogen storage disease support groups, your local metabolic center or Facebook.

The Association for Glycogen Storage Disease has a helpful website. A genetic counselor can help answer any other questions you may have. To find a genetic counselor near you, go to the National Society of Genetic Counselor’s website.

Association for Glycogen Storage Disease
Facebook Page for Association for Glycogen Storage Disease
GSD Life

Babies with glycogens storage disease type 1a are often healthy at birth. Symptoms typically start when the baby is 3 or 4 months old, although in some rare cases babies are born with low blood sugar. Sometimes glycogen storage disease type 1a is not diagnosed until childhood.

Your child will need to follow a strict diet high in carbohydrates and low in sugars. Your child may also need nutritional supplements or a feeding tube to make sure they grow healthy and strong. 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.

If your child has glycogen storage disease type 1a, they should have regular checkups with a pediatric metabolic specialist and a nutritionist or dietician. Children with glycogen storage disease type 1a should also have yearly ultrasound or imaging examinations of their kidneys and liver. Your child may be referred to other specialists depending on their symptoms.

Glycogen storage disease type 1a is usually abbreviated as GSD1a.

Children with glycogen storage disease type 1a who follow a strict diet and have close care when ill have good growth and development. Children and babies who do not receive prompt treatment almost always have disabilities and may have a shorter lifespan.

Glycogen storage disease type 1a (GSD1a) is a genetic condition where the body cannot get energy from glycogen stored in the liver. Typically our bodies break down the food we eat into energy. Some of this energy (called glucose) gets used right away, while the rest gets stored as glycogen and fat in our muscles and liver for later use. People with GSD1a have a genetic change that makes their bodies unable to turn the extra glycogen stored in their liver into glucose that they can use for energy. Instead of acting as a source of energy between meals, the glycogen builds up in the liver and other organs and causes the signs and symptoms of glycogen storage disease 1a.

People with glycogen storage disease type 1a may have low blood sugar, seizures, delayed growth and enlarged organs if not treated. If a child with glycogen storage disease type 1a has vomiting, weakness, fever or shakiness for more than 12 hours, the parent should call the child’s pediatric metabolic specialist to discuss next steps for treatment. In many cases the pediatric metabolic specialist together with the metabolic dietitian will provide a detailed letter to discuss what to do when a child with glycogen storage disease type 1a is ill and what emergency room physicians should do when the child arrives at the hospital. To find a medical professional nearby who can discuss information on the care and treatment of people with glycogen storage disease type 1a, search the listings of medical geneticists [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website . To find a metabolic dietitian specializing in dietary treatment and care for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

Because people with glycogen storage disease type 1a (GSD1a) cannot turn stored glycogen into glucose for energy, they develop hypoglycemia (low blood sugar) if they go too long without eating. This leads to hunger, fatigue and irritability. Very low blood sugar can cause seizures, and prolonged low blood sugar can cause problems with growth and development. Appropriate treatment can prevent many of these complications.

People with GSD1a store extra glycogen in the liver and kidneys. This can cause the liver and kidneys to swell, although they still function normally. Some people with GSD1a get non-cancerous (benign) tumors on their liver and as they get older there is a chance they may have kidney problems. People with GSD1a get regular examinations of their liver and kidneys to monitor for any problems.

Changes in the G6PC gene cause glycogen storage disease type 1a. Typically this gene tells the body how to break down glycogen into glucose, so it can be released from storage and used as energy in between meals. When there is a change in this gene, the body cannot take glycogen out of storage. This means that the body does not have enough glucose to use for energy, and the glycogen builds up in the liver, kidneys and other organs. This leads to the signs and symptoms of glycogen storage disease type 1a.

Babies with glycogen storage disease type 1a who have not been treated can have low blood sugar, enlarged liver and kidneys, delayed growth, irritability and tiredness. If they do not get medical care, these symptoms can progress to seizures and coma.

If your child was recently diagnosed with glycogen storage disease type 1a (GSD1a), you should speak to your pediatrician about the tests and visits to specialists that will be necessary for your child. This may include appointments with a metabolic specialist, dietician, nutritionist and geneticist or genetic counselor. Each of these providers can help answer your questions about specific aspects of your child’s care and what the diagnosis means for you and the rest of your family. They will also help to make a plan to keep your child healthy and growing well through a special diet and follow-up visits.

If you have a child with glycogen storage disease type 1a (GSD1a), your other children should be tested for GSD1a. It is important to diagnose GSD1a as early as possible in order to begin treatment that can help to prevent complications from GSD1a.

Children with glycogen storage disease type 1a need to carefully control what goes in to their body. 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.

Glycogen storage disease type 1a (GSD1a) is not on the newborn screen. Your doctor can order testing for GSD1a if you have a family history of GSD1a, if you and your partner are known to be carriers for GSD1a, or if your child begins showing symptoms of GSD1a.

As of January 2016, there are 3 clinical trials in the U.S. recruiting people with glycogen storage disease type 1a. If you would like more information, ask your doctor or check the website https://clinicaltrials.gov/ct2/results?term=gsd1a&recr=Open.

People with glycogen storage disease type 1a (GSD1a) cannot use glycogen for energy in between meals. Instead of providing energy, the glycogen can build up in the liver and kidneys, causing low blood sugar, seizures, lethargy and difficulty breathing if left untreated. The treatment for GSD1a is to work with metabolic dieticians (professionals specializing in how the body uses food and energy) and your pediatrician to limit the amount of sugars your child eats and to make sure your child eats every 2-4 hours. Sugar is found in many foods, including fruits and dairy products. A nutritionist or dietician can work with you to develop a healthy diet for your child. Many children with GSD1a take extra vitamins such as calcium supplements or a multivitamin. Your medical team may also recommend your child get a feeding tube and eat a mixture of cornstarch and water to make sure they have enough energy in their body throughout the night. Children with GSD1a who follow a strict diet have healthy lives and normal development; however, extra care is needed when they are sick.

Currently there is no cure for glycogen storage disease type 1a (GSD1a). An early diagnosis, strict diet and management by a metabolic physician and dietitian can help people with GSD1a to avoid complications and live healthy lives. To find a metabolic geneticist specializing in dietary treatment and care for people with metabolic conditions, search the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website .

To find a metabolic dietitian specializing in dietary treatment and care for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

Glycogen storage disease type 1a is more common among people with Ashkenazi Jewish ancestry. Boys and girls are equally likely to have glycogen storage disease type 1a.

Your child will have regular visits with the pediatrician and metabolic specialist as well as regular liver and kidney 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 healthy and growing 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.

People with glycogen storage disease type 1a (GSD1a) can and do have children. As someone with GSD1a, you have two copies of the G6PD with a genetic change. All of your biological children will inherit one of these changes from you. Depending on the genetic status of your partner, you may have children who are carriers or children who have GSD1a. Carriers have a genetic change on just one copy of their G6PC gene. They do not have GSD1a themselves, but can pass it on to their children. If you have GSD1a and are considering having children, speak with your doctor or genetic counselor about the chances of having a child with GSD1a. Women with GSD1a who are pregnant should have extra monitoring and examinations throughout the pregnancy. Women with GSD1a should also speak to their doctor before using contraceptives.

It is important that children with glycogen storage disease type 1a eat frequently. They should eat every 3-4 hours throughout the day and even at night. Your doctor and dietitian 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. Your child may also need supplements such as calcium, iron and other vitamins to help them stay healthy.

Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disease. This means people with GSD1a have genetic changes on both copies of their G6PC gene (one copy inherited from mom and one copy inherited from dad). If you have a child with GSD1a, that means both you and your partner are “carriers." Carriers have a genetic change on just one copy of their G6PC gene. They do not have GSD1a themselves, but can pass it on to their children. When two carriers of GSD1a have children, there is a 1 in 4, or 25%, chance for each child to have GSD1a, and a 3 in 4, or 75% chance the child will not have GSD1a.

Glycogen storage disease type 1a (GSD1a) can be diagnosed with a blood test that looks for atypical levels of certain sugars and fats in the blood. Liver biopsy and genetic testing may also be used to diagnose GSD1a.

If your child is showing symptoms of glyocogen storage disease type 1a (GSD1a), if there is a family history of the condition, or if both you and your partner are carriers for GSD1a, you should speak to your doctor about the appropriate testing. For someone who is showing symptoms of GSD1a, testing usually involves a blood test to look for atypical levels of certain sugars and fats. Liver biopsy or genetic testing may also be performed. If there is a family history of GSD1a and you want to know if you are a carrier for the condition, you would speak to your doctor about having genetic carrier testing. Speaking to a genetic counselor is also helpful when undergoing genetic testing, or to learn more about GSD1a. You can find a genetic counselor in your area here: http://nsgc.org/p/cm/ld/fid=164.

ClinicalTrials.gov is an online resource listing clinical trials. You can see the clinical trials for glycogen storage diseaes type 1a at https://clinicaltrials.gov/ct2/results?term=gsd1a&recr=Open. Your doctor or genetic counselor may also know about current clinical trials or research studies.

Your pediatrician can help you find a center with experience treating children with glycogen storage disease type 1a and other metabolic disorders. Another option is to contact the Genetic Metabolic Dietitians International (GMDI) or use their “Find a Metabolic Dietitian” search.

Glycogen storage disease type 1a affects approximately 1 in every 100,000 people in the United States. It is more common in the Ashkenazi Jewish population, where it affects approximately 1 in every 20,000 people.

Carriers of glycogen storage disease type 1a (GSD1a) have one copy of the G6PC gene without a genetic change and one copy of the G6PC gene with a genetic change. Because carriers have one unchanged copy of the gene that works normally, they are healthy and do not have any of the medical issues associated with GSD1a. It is possible, though, for a carrier to pass on the G6PC gene with a change to their children. If you have a family history of GSD1a, are of Ashkenazi Jewish descent, or are otherwise interested in doing carrier testing before or during your pregnancy, your doctor or genetic counselor can order a blood test to see if you are a carrier of GSD1a.

Almost all insurances have full coverage for diagnostic testing if you have a family history or if your child is showing signs of glycogen storage disease type 1a. If you have questions about your coverage, check with your insurance provider.

Fasting and eating certain types of sugar can trigger the symptoms of glycogen storage disease type 1a, or make them worse.

If you and your partner are both carriers for glycogen storage disease type 1a (GSD1a) and your genetic changes are known, it is possible to test a pregnancy for GSD1a by amniocentesis. Amniocentesis uses a needle guided by ultrasound to find a pocket of fluid away from the baby to take some cells for examination. Looking at the genetic information in these cells will allow the laboratory to determine if the fetus has GSD1a or not.

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 in order to coordinate the procedures and testing.

Only changes in the G6PC gene cause glycogen storage disease type 1a.

Glycogen storage disease type 1a has many other names, including:

Glycogen storage disease type 1a (GSD1a) is a type of glycogen storage disease. Babies with glycogen storage diseases are unable to either make or use glycogen for energy. In GSD1a, instead of providing energy between meals, the glycogen builds up and causes problems throughout the body. The health problems seen in GSD1a can look like those seen in some other glycogen storage diseases. Doctors can test the baby’s blood or urine to definitively diagnose glycogen storage disease type 1a.