Treatment is dependent on the type of glycogen storage disease. GSD
Glycogen storage disease
A glycogen storage disease is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis, typically within muscles and/or liver cells.
Allopurinol
Allopurinol is used to treat gout and certain types of kidney stones. It is also used to prevent increased uric acid levels in patients receiving cancer chemotherapy.
What is 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 or glucose.
How is glycogen storage disease diagnosed in a child?
The provider will do a physical exam to check for symptoms such as an enlarged liver or weak muscles.
What are possible complications of glycogen storage disease in a child?
Glycogen buildup can hurt the liver and muscles. This can create other problems if your child has certain types of GSD such as:
What are the symptoms of GSD in a baby?
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. Always see your child’s healthcare provider to be sure.
Why do GSDs occur?
Most GSDs occur because both parents pass on the same abnormal gene to their children. In most cases parents don’t show any symptoms of the disease.
What happens if you have GSD?
When someone has GSD, they are missing one of the enzymes that breaks down glycogen. When an enzyme is missing, glycogen can build up in the liver. Or glycogen may not form properly. This can cause problems in the liver or muscles, or other parts of the body. GSD is passed down from parents to children (is hereditary).
Where does glycogen accumulate in the body?
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. Experts think the abnormal glycogen triggers the body’s infection-fighting system (immune system).
What is glycogen storage disease (GSD)?
Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of the body, depending on the specific type.
What happens when you have GSD?
Children with GSD are missing one of the several enzymes that break down glycogen, and glycogen can build up in the liver, causing problems in the liver, muscles or other parts of the body . When the enzyme deficiency affects the liver, it leads to low blood glucose levels (also called hypoglycemia) during periods of fasting ...
What is the process of breaking down glucose into glucose?
The excess glucose that is not needed right away is stored as glycogen in the liver and muscle cells to use later. When the body needs more energy, enzymes break down glycogen into glucose, a process called glycogen metabolism or glycogenolysis.
How often should a child with GSD be seen?
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. Genetic counseling is recommended for affected individuals and their families.
What is the purpose of GCSF?
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.
Why do children need glucose tests?
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.
What are the most common types of GSD?
The most common types of GSD are types I, II, III and IV, accounting for nearly 90% of all cases. About 25% of patients with GSD are thought to have type I. GSD types VI and IX can have very mild symptoms and may be underdiagnosed or not diagnosed until adulthood.
What is glycogen storage disease?
Glycogen storage disease is a metabolic disease that affects your ability to synthesize or break down and use glycogen — the storage form of glucose (more on this in the next section). With a few exceptions, most forms of GSD inhibit glycogen breakdown. This causes excess glycogen to accumulate in muscles, liver, kidney, ...
How does glycogen storage work?
Once stored, glycogen sits in your muscle and liver cells until you have low blood sugar — during a fast or intense exercise session, for instance. Then, to raise your low blood sugar, glycogen converts into glucose so your body can use it for energy — a process called glycogenolysis.
How does glycogen work?
Then, to raise your low blood sugar, glycogen converts into glucose so your body can use it for energy — a process called glycogenolysis.
How many types of GSD are there?
Believe it or not, there are at least 16 types of GSD (type 0 through 15). This article, however, will only cover the first eight, not counting the subtypes within each type. Recall that glycogen storage disease results from genetic mutations that disrupt the storage and breakdown of glycogen.
What is GSD research?
The Future Of GSD Research. Glycogen storage disease (GSD) is a rare genetic disorder that affects about one in 20,000 people in the U.S.
- ]. People with GSD have trouble synthesizing and breaking down glucose, which can cause a laundry list of health issues, including chronic low blood sugar, enlarged liver, weak muscles, and more.
How to reduce sugar in blood?
The obvious way to reduce sugar in the blood? Eat fewer carbs.
Is glycogen storage disease inherited?
And although glycogen storage disease is inherited, it’s not necessarily a hopeless diagnosis. Gene therapies show early promise, and enzyme replacement drugs appear to help some of the GSD population with enzyme deficiency. Nutrition changes may also offer some relief. Read on to find out.
What is glycogen storage disease?
Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It was first described by Von Gierke in 1929 who reported excessive hepatic and renal glycogen in the autopsy reports of 2 children. It comprises 2 major subtypes, GSD Ia and GSD Ib. In GSD Ia, there is a deficiency of enzyme glucose-6-phosphatase (G6Pase) which cleaves glycogen to glucose thus leading to hypoglycemia and lactic acidosis. This activity reviews the evaluation and treatment of abdominal aortic aneurysms and highlights the role of the interprofessional team in evaluating and treating this condition.
What is the first line of treatment for GSD?
Dietary therapy is the first line treatment for patients with GSD I. However, to prevent long-term complications of the disease such as hepatocellular adenoma (HCA), hepatocellular carcinoma (HCC), renal failure among others, gene therapy in animal models of GSD is showing potential for the future trial in humans. [3]
How often should I do liver function test for GSD I?
Therefore, a liver function test should be repeated every 6 to 12 months. Liver transplantation is an option for patients with multifocal growing lesions that do not respond to primary treatment. [1]
How to manage GSD 1?
The main targets for the management of GSD I are the prevention of acute metabolic derangement, prevention of acute and long-term complications, attainment of normal psychological development, and good quality of life . Diet and lifestyle changes are made to prevent the primary concern of the disease, hypoglycemia. Monitoring of blood glucose along with the laboratory parameters should continue as with increasing growth, the child’s nutritional needs change. Fasting should be avoided, and frequent small feeds rich in complex carbohydrates along with fiber is recommended. Carbohydrates should make up for 60% to 70% calories.[1] Fructose and galactose are not metabolized to glucose-6-phosphate due to the deficiency of the enzyme. Therefore, a diet low in fructose and sucrose is recommended with limiting the intake of galactose and lactose to one serving per day. [5]
How to confirm GSD I?
The first choice to confirm the clinical suspicion of GSD I is a mutation analysis. After excluding patients with neutropenia, complete G6PC sequencing is performed. During the availability of liver biopsy tissue, G6Pase enzyme activity is analyzed to confirm the diagnosis. [1]
How prevalent is GSD I?
The incidence of GSD I in the overall population is 1/100,000 with GSD Ia and Ib prevalent in 80% and 20% respectively. The Ashkenazi Jewish population has a 5-times greater prevalence compared to rest of the population. [1]
Where is G6Pase expressed?
The enzyme G6Pase is primarily expressed in the liver, kidney, and intestine. It has its active site on the luminal side of the endoplasmic reticulum (ER). Glucose-6-phosphate translocase is responsible for translocating Glucose-6-phosphate (G6P) from the cytoplasm into the ER lumen. The complex of G6Pase and G6PT catalyzes the final step of both glycogenolysis and gluconeogenesis for glucose production. Deficiency of either causes an accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. [1][3]
What type of glycogen storage disease is treated with liver transplantation?
This is done to prevent gout and kidney stones. Type IV is sometimes treated with liver transplantation. 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.
How to improve glycogen storage?
Improving exercise tolerance by oral intake of glucose or fructose (fructose must be avoided in people with type I), or an injection of glucagon. Eating a high protein diet. There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it.
What are the different types of glycogen storage diseases?
The main types of glycogen storage diseases in children are categorized by number and name. They include: Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases. Type II ( Pompe's disease, acid maltase deficiency)
What is glycogen storage disease?
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Glycogen is the storage form of glucose in our bodies. Glucose is a simple sugar, which is ...
What tests are done to determine if a child has glycogen storage disease?
The doctor will perform tests to rule out or confirm the diagnosis. These tests may include: Biopsy of the affected organs. Blood tests and urine tests.
What is the best way to reduce uric acid in blood?
(Uncooked cornstarch provides a steady slow-release form of glucose.) Elimination of foods that are high in fructose or lactose (type I only) Allopurinol (Aloprim, Zyloprim) may be prescribed to reduce uric acid levels in the blood.
Which type of glycogen storage disease affects the liver?
The glycogen storage diseases that mainly affect the liver are types I, III, IV, and VI. The glycogen storage diseases that mainly affect muscles are types V and VII. Type II affects nearly all organs, including the heart.
What is glycogen storage disease?
Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types ...
How to make a diagnosis for a genetic disorder?
Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
What is GHR in MedlinePlus?
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Genetics Home Reference (GHR) contains information on Glycogen storage disease type 1A. This website is maintained by the National Library of Medicine.
What is a GHR?
Genetics Home Reference (GHR) contains information on Glycogen storage disease type 1A. This website is maintained by the National Library of Medicine.
How to find a genetics specialist?
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
