During such treatment, a working version of the GAA enzyme — which is dysfunctional in Pompe disease patients — is administered to replace the defective enzyme and help clear glycogen from cells. Pompe disease is caused by any of more than possible mutations in the GAA gene , which carries instructions for making the GAA enzyme.

To have Pompe disease, a person must inherit two copies of a mutated GAA gene — one from each biological parent. Someone who has only one copy of a mutated gene is called a carrier.

Carriers will not develop Pompe or have any symptoms , but may pass on the mutation to their children. There are not many studies available on how Pompe disease can affect pregnancy, and vice versa.

Thus, it is important for individuals with Pompe to discuss the risks of becoming pregnant with their healthcare team, and establish an individualized care plan. Pregnancy can make Pompe symptoms — such as muscle weakness and respiratory problems — worse in women who have the disease.

Moreover, pregnancy may cause initial Pompe disease symptoms to arise in women who have not had any symptoms until that point. However, more studies are needed on this topic, given that data on the use of ERTs during pregnancy is still limited. If possible, a multidisciplinary team of healthcare professionals should work with pregnant patients to create an individual care plan for the pregnancy and postpartum periods.

The team will discuss with the patient whether any prescribed medications should be changed during pregnancy, and keep track of any Pompe symptom changes that may occur. Care should continue after the patient has given birth.

People with a family history of Pompe disease, or those with parents who have the disorder, may want to discuss with their doctor what their options are for learning whether their unborn baby is affected.

Diagnosis may be done through genetic testing via chorionic villus sampling — in which a sample is taken of placental tissue, usually at 10 to 13 weeks gestation. That sample will have DNA from the fetus, which can be checked for mutations in the GAA gene. Fetal DNA also can be collected through amniocentesis, a procedure in which a sample of the amniotic sac around the fetus is taken and then tested.

Those who choose to do chorionic villus sampling or amniocentesis also should receive counseling from a healthcare professional. Such counselors will discuss the results with the expectant parents and answer any questions they may have.

For patients or their partners who are carriers or have Pompe disease, there are several reproductive options to be considered before getting pregnant. These include in vitro fertilization combined with pre-implant genetic testing. In vitro fertilization , commonly known as IVF, is when a human egg is fertilized by sperm in a laboratory setting and then tested for genetic mutations — such as in the GAA gene that causes Pompe disease — before it is implanted in the uterus.

This is referred to as pre-implantation genetic analysis. The technique allows the selection of a fertilized egg that does not have GAA gene mutations. IVF can be done with egg and sperm from the parents or from a known or anonymous donor. Some risks, including miscarriage, multiple births, and premature birth, do accompany IVF.

The use of enzyme replacement therapy after a fetus has screened positive for Pompe disease is being studied by researchers. Initial data suggest it potentially can be an effective therapeutic option.

In these cases, ERT is administered via the umbilical vein, similar to the way that intrauterine blood transfusions can be given to a fetus. 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.

Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients.

In certain types of GSD, children must limit their amount of exercise to reduce muscle cramps. Genetic counseling is recommended for affected individuals and their families. Next Steps Contact Us. Congenital Hyperinsulinism Center.

Buerger Center for Advanced Pediatric Care. Stay in Touch. Subscribe to HI Hope, our e-newsletter for families. Your Child's HI Appointment. The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy.

Although most patients reach adulthood without major complications, no pregnancies in women with GSD VI have been reported so far. We report on a successful pregnancy in a GSD VI patient that resulted in a healthy offspring and describe the pre- and perinatal management.

Glycogen storage disease type VI GSD VI, OMIM is a rare inherited disorder of glycogen metabolism caused by mutations in the PYGL gene resulting in deficiency of hepatic glycogen phosphorylase PYGL [ [1] , [2] , [3] , [4] ]. The incidence is approximately ,—, [ 1 ].

Patients with GSD VI usually present in childhood with hepatomegaly and recurrent hypoglycemia. Other clinical symptoms comprise impaired growth resulting in short stature, osteopenia, delayed puberty and hepatic fibrosis [ 1 , 2 ]. Typical laboratory findings include hypoglycemia with hyperketonemia, elevated transaminase concentrations, hyperlipidemia, and reduced prealbumin concentration [ 1 ].

Most adults with GSD VI are asymptomatic [ 2 ]. As GSD VI is typically a rather mild disease, women with GSD VI usually reach the child-bearing age without major complications. Nevertheless, to our knowledge, no pregnancies in patients with GSD VI have been reported so far.

The patient is the first child of non-consanguineous parents. Clinical signs of hypoglycemia including sweating and shakiness were reported from early infancy throughout childhood. During early childhood the patient required feeding every 2 h, also at night.

Hepatomegaly and elevated transaminases were first noted at 3 years. At the age of 6, a liver biopsy was performed and the diagnosis of GSD VI was made based on reduced activity of hepatic PYGL.

Until age 13, the patient received regular cornstarch doses during the night, and no episodes of severe hypoglycemia were reported in the further course. From puberty until the age of 36, the patient was lost to follow-up.

When she first presented to our metabolic centre at the age of 36, mild hepatomegaly was present, but otherwise she was in good metabolic control. She was on a self-chosen low-carb diet to reduce weight body weight kg, BMI Mutation analysis of the PYGL gene was performed and yielded compound heterozygosity for the variants c.

GlyArg and c. At age 38, the patient became pregnant after fertility treatment. Apart from ovarian hyperstimulation syndrome, the pregnancy was uncomplicated. Her maximum fasting time during the night was 11 h with blood glucose levels above 4. The patient took a protein-rich bedtime snack or alternatively 30 g of uncooked corn starch.

No severe hypoglycemias occurred throughout pregnancy lowest documented glucose level 3. In compliance with our recommendation, no oral glucose tolerance test was performed in the second trimester.

Weight gain during pregnancy was 25 kg weight before pregnancy kg, BMI In the 37th week of gestation, she spontaneously delivered a healthy baby boy weight g 76th centile , length 52 cm 71th centile , head circumference Under this regimen, blood glucose remained stable throughout delivery.

The boy could be breastfed without any problems and shows normal development at age 5 months. With him being a heterozygous carrier of the disease, no special precautions needed to be taken. GSD VI is a rare disorder with only about 50 cases reported.

Due to the rather benign character and good prognosis of the disease, more and more patients will reach child-bearing age. To our knowledge, this is the first pregnancy of a woman with GSD VI. To ensure an adequate supply of nutrients and energy to the unborn foetus, several alterations in maternal physiology occur during pregnancy mainly influenced by placental hormones [ 5 ].

While the first half of pregnancy is an anabolic state associated with increased insulin sensitivity and fat deposition in adipose tissue, the second half is characterized by a maternal insulin resistant state in order to preserve maternal glucose for foetal metabolism.

Additionally, hepatic glucose production increases to meet the growing demands of both the foetus and the mother [ 6 ]. As women with GSD VI may not be able to match glucose production with increasing energy demands, patients with GSD VI are at risk for metabolic derangements with more pronounced hypoglycemia and hyperketonemia during pregnancy [ 7 ].

Careful monitoring and optimal dietetic treatment are therefore necessary throughout pregnancy to maintain maternal blood glucose levels in the normal range for the safety and proper development of the fetus [ 8 ].

For GSD type I, it has been shown that good metabolic control before conception and throughout pregnancy is directly related to successful outcomes [ 8 ]. In patients with GSD III it has been shown that maternal hypoglycemia may be associated with intrauterine growth restriction and low birth weight [ 7 ], and similar relations can be expected in GSD VI.

The mainstay of therapy in GSD VI is the prevention of prolonged fasting, a protein-rich diet and supplementation with uncooked corn starch, if necessary. Treatment and monitoring have to be adapted on an individual basis.

In the non-GSD population, oral glucose tolerance tests are routinely performed in the second trimester to screen for gestational diabetes. It is important to note that this test is contraindicated in women with GSDs, as fasting prior to the ingestion of 75 g of concentrated glucose is required for proper interpretation [ 8 ].

Fasting, however, poses a high risk of hypoglycemia on pregnant GSD women, and a large bolus of concentrated glucose can cause metabolic instability and result in lactic acidosis [ 8 , 9 ]. To prevent hypoglycemia during delivery, peripartum management should include administration of a high glucose-electrolyte infusion and regular monitoring of blood glucose and ketones during labour.

Optimal planning and interdisciplinary collaboration between metabolic physicians and gynecologists is necessary to guarantee a safe setting for mother and child. Our case demonstrates that successful pregnancy is possible in GSD VI. Careful monitoring during pregnancy and delivery is necessary to minimize the risk of recurrent hypoglycemia for both mother and child.

We are grateful to the patient for her support of this publication. This work was supported by the Metabolic Division in the University Children's Hospital, which is part of the Freiburg Center for Rare Diseases.

Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders MetabERN — Project ID No We acknowledge David Weinstein, Terry Derks and Ulrike Steuerwald for their clinical advice with respect to glycogen storage diseases and many fruitful discussions.

The article processing charge was funded by the Baden-Wuerttemberg Ministry of Science, Research and Art and the University of Freiburg in the funding programme Open Access Publishing.

Grünert SC , Hannibal L , Spiekerkoetter U. Genes Basel , 12 8 , 03 Aug Cited by: 7 articles PMID: PMCID: PMC Review Articles in the Open Access Subset are available under a Creative Commons license.

This data has been text mined from the article, or deposited into data resources. To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation.

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.

They can find out your chances of having a child with GSD. A child with GSD may have special needs and will need continued follow up with multiple healthcare providers. Be sure that your child gets regular medical care. It is important that your child's healthcare provider checks their condition.

Regular medical visits will also help you keep up with new treatment choices. Teach your child and any siblings about GSD in an age-appropriate manner. An educated, supportive, family approach will help your child cope with the illness and also help family members manage the stress of a chronic illness.

Glycogen storage disease GSD is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children inherited. For most GSDs, each parent must pass on one abnormal copy of the same gene.

There are at least 9 known types of GSD. Symptoms often first appear in babies or young children. In some cases, GSD can appear in adults. At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

Know what to expect if your child does not take the medicine or have the test or procedure. If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

This is important if your child becomes ill and you have questions or need advice. Search Encyclopedia. Glycogen Storage Disease in Children What is glycogen storage disease in children?

Types of GSD Experts know of at least 9 types of GSD. The most common types of GSD are types I, III, and IV: Type I or von Gierke disease. What causes glycogen storage disease in a child?

Glycogen storage disease is passed down from parents to children hereditary. Which children are at risk for glycogen storage disease? What are the symptoms of glycogen storage disease in a child?

General symptoms of GSD may include: Not growing fast enough Not feeling comfortable in hot weather heat intolerance Bruising too easily Low blood sugar hypoglycemia An enlarged liver A swollen belly Weak muscles low muscle tone Muscle pain and cramping during exercise Symptoms for babies may include: Too much acid in the blood acidosis High blood cholesterol levels hyperlipidemia The symptoms of GSD may look like other health problems.

How is glycogen storage disease diagnosed in a child? How is glycogen storage disease treated in a child? Treatment will vary depending on what type of GSD your child has. What are possible complications of glycogen storage disease in a child?

This can create other problems if your child has certain types of GSD, such as: Type I. What can I do to prevent glycogen storage disease in my child? How can I help my child live with glycogen storage disease? Online or in-person support groups may also be helpful for you and your family.

Many forms of glycogen storage disease appear in babies and young children. Talk with your healthcare provider if your child: Is not growing fast enough Has constant chronic hunger Has a swollen belly Teens and adults should watch for the following symptoms when they exercise: Muscle weakness Pain Cramps Key points about glycogen storage disease in children Glycogen storage disease GSD is a rare condition that changes the way the body uses and stores glycogen, a form of sugar.

Most parents do not show any signs of GSD. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Taal MW, Skorecki K, eds. Brenner and Rector's The Kidney. Philadelphia, PA: Elsevier; chap Kishnani PS, Chen Y-T.

Defects in metabolism of carbohydrates. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. Litwack G. Glycogen and glycogenolysis. In: Litwack G, ed. Human Biochemistry. Philadelphia, PA: Elsevier; chap 7. Santos BL, Souza CF, Schuler-Faccini L, et al.

Glycogen storage disease type 1: clinical and laboratory profile. J Pediatr Rio J. PMID: pubmed. Contact Atlanta Obsetrics and Gynaecology at The Womens Center Millennium Hospital - ATL-BABY. Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL.

Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A. Editorial team. Pregnancy SmartSite TM Home Email Site Map Contact. Normal Pregnancy Staying Healthy Alcohol and pregnancy Managing your weight gain in pregnancy Steps to take before you get pregnant When you need to gain more weight during pregnancy What to expect during pregnancy Aches and pains during pregnancy Choosing the right practitioner Common symptoms during pregnancy Hyperemesis Gravidarum Morning sickness Pregnancy and travel Pregnancy and work Problems sleeping during pregnancy Skin and hair changes during pregnancy Teenage pregnancy Preparing to go home with your baby Cribs and crib safety Eat right during pregnancy Preparing your other children Visits and Tests Amniocentesis Chorionic villus sampling Genetic counseling before pregnancy Glucose tolerance test-pregnancy Monitoring your baby before labor Nuchal translucency Prenatal care in your first trimester Prenatal care in your second trimester Prenatal care in your third trimester.

von Gierke disease Definition Von Gierke disease is a condition in which the body cannot break down glycogen. Causes Von Gierke disease occurs when the body lacks the protein enzyme that releases glucose from glycogen.

Symptoms These are symptoms of von Gierke disease: Constant hunger and need to eat often Easy bruising and nosebleeds Fatigue Irritability Puffy cheeks, thin chest and limbs, and swollen belly Exams and Tests Your health care provider will perform a physical exam.

The exam may show signs of: Delayed puberty Enlarged liver Gout Inflammatory bowel disease Liver tumors Severe low blood sugar Stunted growth or failure to grow Children with this condition are usually diagnosed before age 1 year. Tests that may be done include: Biopsy of liver or kidney Blood sugar test Genetic testing Lactic acid blood test Triglyceride level Uric acid blood test If a person has this disease, test results will show low blood sugar and high levels of lactate produced from lactic acid , blood fats lipids , and uric acid.