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Genetic factors in glycogen storage disease

Genetic factors in glycogen storage disease

Since glycogen storage diseases Insulin pump features hereditary, the primary storagge factor for is having a family Genetic factors in glycogen storage disease with dixease disease. Factofs and Loridan found that the effects of glycerol administered by mouth on levels of glucose and of lactate, together with the response to epinephrine or glucagon, permitted differentiation of the several types of hepatic glycogenosis I, II, III and IV. Creation Date:. Email: info agsdus.

Genetic factors in glycogen storage disease -

Facts at-a-Glance Also known as von Gierke disease , is a more severe form of Glycogen Storage Disease. All Glycogen Storage diseases together affect fewer than 1 in 40, persons in the United States. Information for the Newly Diagnosed What are the symptoms of GSD I? What causes GSD I?

How is GSD I diagnosed? How is GSD I treated? Who is at risk for GSD I? Questions to Ask Your Doctor Do I have type 1 or type 2 GSD?

How is GSD affecting my body? What is the treatment options for GSD? Are there specific foods or diet which would help my liver disease? Is my diagnosis of GSD genetic and if so, should others in my family be tested? Is my metabolism affected by GSD? If my metabolism is affected — are there medications or therapies which can help?

Search for a Clinical Trial Clinical trials are research studies that test how well new medical approaches work in people. Despite the deficiency of PhK in muscle as well as liver, muscle weakness is not always reported in people with this subtype.

Glycogen Storage Disease Type IXc This subtype of GSD-IX is characterized by phosphorylase kinase deficiency of the liver. It is also known as PHKG2-related phosphorylase kinase deficiency.

The symptoms are similar to those in people with GSD-IXa and GSD-IXb, but tend to be severe. Like GSD IXa and GSD-IXb, this form of the disorder is characterized by an enlarged liver, hypoglycemia, hypotonia and delays in motor development in some children, and growth delays in childhood.

Most individuals attain a normal adult height.. Some children may develop recurrent episodes of low blood glucose levels hypoglycemia. This can result in the body burning fat for energy resulting in high levels of ketones in the body hyperketosis. Hyperketotic hypoglycemia may only occur after prolonged fasting, such as overnight or during an illness if food intake is reduced, and can be associated with nausea and vomiting.

Benign tumors of the liver, also known as hepatic adenomas may be seen in some individuals. Affected individuals may present with a wide range of disease symptoms. Understanding of this disease continues to evolve as more cases come to light.

In some cases of GSD-IXc, more serious complications can occur such as the development scar tissue fibrosis within the liver as well as degeneration, inflammation and scarring of the liver cirrhosis.

The risk of these complications appears to be greater in GSD-IXc than in other forms of the disorder. Liver transplantation may be needed for survival in some patients who have severe liver damage. Glycogen Storage Disease Type IXd This extremely rare form of the disorder is characterized by phosphorylase kinase deficiency of the muscle.

The liver is not affected. Affected individuals may develop progressive muscle weakness, muscle degeneration atrophy , muscle cramps, abnormal muscle pain myalgia that occurs following exercise exercise-induced muscle pain , abnormal muscle stiffness following exercise and rust colored urine due to excretion of myoglobin, a muscle protein myoglobinuria.

In general, affected individuals cannot exercise at normally accepted levels exercise intolerance. The onset of symptoms can occur in childhood or adulthood; most patients have adult onset.

Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms. This form is also known as PHKA1-related phosphorylase kinase deficiency. Glycogen storage disease type IX is caused by mutations in the PHKA1 , the PHKA2 , the PHKB , or the PHKG2 gene.

Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation is present in a gene, the protein product may be faulty, inefficient, or absent.

Depending upon the functions of the particular protein, this can affect many organ systems of the body. For GSD-IX, these mutations can be inherited in either an autosomal recessive or X-linked manner. Genetic diseases are determined by the combination of genes for a particular trait.

Genes are packaged in the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits an altered gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

The chance is the same for males and females. X-linked recessive genetic disorders are conditions caused by an altered gene on the X chromosome. In some cells of the body, one of the X chromosomes is inactivated, while in the remaining cells, the other X chromosome is inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder.

Carrier females usually do not display symptoms of the disorder but may have symptoms if the X chromosome with the altered gene is the one that is active in a larger proportion of cells.

Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes. A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease.

Males with X-linked disorders pass the disease gene to all of their daughters. The daughters will be carriers if the other X chromosome from their mother is normal. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

Investigators have determined that glycogen storage disease type GSD-IXa is caused by mutations in the PHKA2 gene, which is located on the short arm p of the X chromosome Xp This form of the disorder is inherited in an X-linked manner.

Some individuals have a mutation in this gene that causes detectable phosphorylase kinase deficiency in laboratory tests sometimes called X-linked glycogenesis type 1 or XLG1.

Other individuals have a different mutation in this gene that presumably disrupts the function of phosphorylase kinase in the body, but results in normal activity of the enzyme in laboratory tests sometimes called X-linked glycogenesis type 2 or XLG2.

Investigators have determined that glycogen storage disease type IXb is caused by mutations in the PHKB gene, which is located on the long arm q of chromosome 16 16q This form of the disorder is inherited in an autosomal recessive manner. Investigators have determined that glycogen storage disease type IXc is caused by mutations in the PHKG2 gene, which is located on the short arm p of chromosome 16 16p Investigators have determined that glycogen storage disease type IXd is caused by mutations in the PHKA1 gene, which is located on the long arm q of the X chromosome Xq The enzyme phosphorylase kinase consists of four separate pieces called subunits.

Each of the genes associated with GSD-IX contain instructions for creating encoding one of these subunits. A mutation in one of these genes results in a deficiency of functional levels of the associated protein product.

An abnormality in any of these subunits results in phosphorylase kinase deficiency, although the specific symptoms may vary. For example, mutations in the PHKA1 gene result in a deficiency of the alpha subunit of phosphorylase kinase in muscle.

This causes a deficiency of the enzyme in muscle, but not the liver. The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The X-linked forms primarily affect males, although females can have symptoms, such as enlargement of the liver and, more rarely, females can have symptoms similar to those seen in males.

GSD-IX types A, B and C are estimated to affect 1 in , individuals in the general population. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population.

GSD-IXd is extremely rare and its prevalence is unknown. Symptoms of the following disorders can be similar to those of glycogen storage disease type IX.

Comparisons may be useful for a differential diagnosis. Hers disease, also known as glycogen storage disease type VI GSD-VI , is a rare genetic disorder characterized by deficiency of the liver glycogen phosphorylase enzyme.

This enzyme is activated by the liver enzyme, phosphorylase kinase that is deficient in GSD-IX. These disorders cannot be distinguished from associated symptoms, which are extremely similar.

Enzymatic assay or molecular genetic testing can distinguish GSD-VI from GSD-IX. GSD-VI is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner. Other glycogen storage diseases, such as GSD-III, can have symptoms and physical findings that are similar to those seen in individuals with the liver form of GSD-IX.

In addition, certain mitochondrial myopathies and other metabolic diseases may have symptoms that are similar to the muscle form of GSD-IX.

Such disorders include carnitine palmitoyltransferase II deficiency, very long chain Acyl CoA dehydrogenase VCLAD deficiency, and phosphoglycerate kinase deficiency. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.

Isolated cases of cardiac phosphorylase kinase deficiency, which present as heart failure in infancy, have been reported. However it has come to light that this is primarily caused by a mutation in the PRKAG2 gene. The deficiency of phosphorylase kinase in this disorder seems to be a secondary effect Affected individuals develop disease or weakening of the heart muscle cardiomyopathy very early in life.

A diagnosis of glycogen storage disease type IX is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

Clinical Testing and Workup The diagnosis of the liver form of GSD-IX is often first suspected from symptoms, such as hepatomegaly and growth delay, and abnormalities on routine laboratory tests including elevated liver transaminases, and elevations of cholesterol and triglyceride levels.

Some children may present with seizures caused by low glucose levels. However, these findings are nonspecific and more specialized enzyme and genetic tests are needed to diagnose GSD-IX.

These tests include an enzyme assay that measures the activity of phosphorylase kinase in red blood cells erythrocytes or in liver tissue.

However, normal phosphorylase kinase activity does not exclude a diagnosis samples from some affected individuals have had normal activity when tested. Individuals with symptoms of muscle PhK activity can have elevated creatine kinase level in blood but the presentation is similar to many other muscle disorders, and measurement of phosphorylase kinase activity in a muscle sample is needed to further investigate the diagnosis.

Molecular genetic testing can confirm a diagnosis of GSD-IX. Molecular genetic testing can detect mutations in specific genes known to cause GSD-IX but, like the enzyme test, is available only as a diagnostic service at specialized laboratories.

Prenatal diagnosis for at-risk pregnancies allows prior identification of risk in families with affected individuals. PubMed PMID: Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS. Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol ;— Dagli AI, Lee PJ, Correia CE, et al. Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.

Chou JY, Mansfield BC. Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat. Franco LM, Krishnamurthy V, Bali D, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Lewis R, Scrutton M, Lee P, Standen GR, Murphy DJ. Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. Eur J Obstet Gynecol Reprod Biol. Ekstein J, Rubin BY, Anderson, et al.

Mutation frequencies for glycogen storage disease in the Ashkenazi Jewish Population. Am J Med Genet A. Melis D, Parenti G, Della Casa R, et al.

Brain Damage in glycogen storage disease type I. J Pediatr. Rake JP, Visser G, Labrune, et al. Guidelines for management of glycogen storage disease type I-European study on glycogen storage disease type I ESGSD I. Eur J Pediatr. Rake JP Visser G, Labrune P, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome.

Results of the European study on glycogen storage disease type I EGGSD I. Eur J Pediat. Chou JY, Matern D, Mansfield, et al. Type I glycogen Storage diseases: disorders of the glucosePhosphatase complex. Curr Mol Med. Schwahn B, Rauch F, Wendel U, Schonau E.

Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. Visser G, Rake JP, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b. Results of the European study on glycogen storage disease type I. Weinstein DA and Wolfsdorf JI.

Effect of continuous gucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr ; Janecke AR, Mayatepek E, and Utermann G. Molecular genetics of type I glycogen storage disease.

Mol Genet Metab. Viser G, Rake JP, Fernandes, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type 1b: results of the European study on glycogen storage disease type I. Chen YT, Bazarre CH, Lee MM, et al. Type I glycogen storage disease: nine years of management with corn starch.

INTERNET Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. In: Adam MP, Ardinger HH, Pagon RA, et al.

GeneReviews® [Internet]. Seattle WA : University of Washington, Seattle; NORD strives to open new assistance programs as funding allows. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Rare Disease Database.

Glycogen Storage Disease Type I Print. Acknowledgment NORD gratefully acknowledges Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Duke Health; Co-Director, Biochemical Genetics Laboratories, Duke University Health System, and Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan for assistance in the preparation of this report.

Disease Overview Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Detailed evaluations may be useful for a differential diagnosis: Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits.

Genetic counseling is recommended for affected individuals and their families.

GSD has two Nutrient absorption rate of cause: Genetic factors in glycogen storage disease and environmental. Genetic GSD tsorage caused GGenetic any inborn error of carbohydrate metabolism Genetic factors in glycogen storage disease defective enzymes or transport Genetic factors in glycogen storage disease gljcogen in Fermented vegetables recipes processes. In livestock, environmental GSD is sotrage by intoxication with the alkaloid castanospermine. However, not diwease inborn error of carbohydrate metabolism has been storaeg a GSD number, even if it is known to affect the muscles or liver. For example, phosphoglycerate kinase deficiency gene PGK1 has a myopathic form. Also, Fanconi-Bickel syndrome gene SLC2A2 and Danon disease gene LAMP2 were declassed as GSDs due to being defects of transport proteins rather than enzymes ; however, GSD-1 subtypes b, c, and d are due to defects of transport proteins genes SLC37A4, SLC17A3 yet are still considered GSDs. Phosphoglucomutase deficiency gene PGM1 was declassed as a GSD due to it also affecting the formation of N-glycans; however, as it affects both glycogenolysis and glycosylationit has been suggested that it should re-designated as GSD-XIV.

Genetic factors in glycogen storage disease -

There are many different types of GSD, based on which enzyme is missing. Some types affect only the liver, others only the muscles, while some affect both the liver and the muscles.

Each type has slightly different symptoms. Treatments vary for the various types of GSD. Glycogen storage disease type I GSD I , also known as von Gierke disease, accounts for about 25 percent of all children with GSD.

Symptoms typically appear when an infant is 3 to 4 months of age and may include hypoglycemia low blood sugar , which can cause fatigue , constant hunger, and crankiness. The liver and sometimes the kidneys swell due to built-up glycogen. Glycogen storage disease type III GSD III , also known as Cori disease or Forbes disease, causes glycogen to build up in the liver and muscles.

Symptoms typically appear within the first year of life. Children with this type of GSD may have a swollen belly, delayed growth , and weak muscles.

Glycogen storage disease type IV GSD IV , also known as Andersen disease, is one of the most serious types of GSD. This type of GSD often leads to cirrhosis of the liver and can affect the heart and other organs as well.

Infants with type I GSD I may have low blood sugar. This type of GSD can also lead to lactic acidosis, a buildup of lactic acid, which can cause painful muscle cramps. As they mature into adolescence, children with GSD I may have delayed puberty and weak bones osteoporosis.

Other risks include:. Infants with type III GSD III may have low blood sugar and excess fat in their blood. As they get older, their livers may become enlarged. Children with this type of GSD are also at risk for:. Infants with Type IV GSD IV may not have low blood sugar, but they can develop early complications.

Children who survive with GSD IV are at risk for the following complications:. GSD is an inherited disease. 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.

Learn about other Liver Disease States. Children's Hospital's main campus is located in the Lawrenceville neighborhood.

Our main hospital address is:. Pittsburgh, PA In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region. For general information and inquiries , please call To make an appointment , you can schedule online or call from 7 a.

Monday through Friday Share a comment, compliment or concern. Tell us what you think about our website - send an email to feedback chp. In addition, some subtypes have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis.

Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.

Individuals with the liver form of GSD-IX have a wide range of clinical symptoms ranging from less severe to more severe hepatic manifestations of the disease. Natural history studies are necessary to understand completely the long-term course and prognosis of GSD IX.

Glycogen Storage Disease Type IXa GSD-IXa is the most common subtype of GSD IX, and is caused by the deficiency of phosphorylase kinase in the liver. Affected individuals often develop an enlarged liver hepatomegaly , low blood glucose levels hypoglycemia and high levels of blood ketones during fasting, and growth delays.

Some children have delays in motor development. Hypoglycemia can develop after fasting overnight, after shorter periods of fasting, or if food intake is reduced during illness. Symptoms of hypoglycemia include shakiness, irritability, unexplained fatigue, headache, pale skin, and rapid heartbeat.

Hypoglycemia can result in the body burning fat for energy in which causes high levels of ketones in the body hyperketosis. Hyperketotic hypoglycemia can be associated with nausea and vomiting. Hypoglycemia can also be very severe and may recur.

Growth delays can be pronounced during childhood, but most children show catch-up growth and ultimately reach a normal adult height. Diminished muscle tone hypotonia and muscle weakness may also be seen during early childhood.

Puberty may be delayed. Increased levels of different lipids such as cholesterol hypercholesterolemia and triglycerides hypertriglyceridemia may be seen in blood of some affected individuals. Although GSD-IXa has, historically, been considered a benign mild disorder, this notion is being currently dispelled with reports of patients with severe symptoms.

It is being increasingly recognized that there is a broad range in the severity of symptoms. Some people have few or no problems with hypoglycemia while others have severe and recurrent hypoglycemia.

There have been reports in the medical literature of cases in which scar tissue has developed within the liver fibrosis and, in some children may develop irreversible scarring of the liver cirrhosis.

Glycogen Storage Disease Type IXb This subtype of the disorder is characterized by phosphorylase kinase deficiency of the liver and the muscle. It is also known as PHKB-related phosphorylase kinase deficiency. The symptoms are similar to those in people with GSD-IXa.

Children with GSD-IXb can develop an enlarged liver hepatomegaly , hypoglycemia, diminished muscle tone hypotonia , muscle weakness, and growth delays that can result in childhood short stature. Despite the deficiency of PhK in muscle as well as liver, muscle weakness is not always reported in people with this subtype.

Glycogen Storage Disease Type IXc This subtype of GSD-IX is characterized by phosphorylase kinase deficiency of the liver. It is also known as PHKG2-related phosphorylase kinase deficiency. The symptoms are similar to those in people with GSD-IXa and GSD-IXb, but tend to be severe.

Like GSD IXa and GSD-IXb, this form of the disorder is characterized by an enlarged liver, hypoglycemia, hypotonia and delays in motor development in some children, and growth delays in childhood.

Most individuals attain a normal adult height.. Some children may develop recurrent episodes of low blood glucose levels hypoglycemia. This can result in the body burning fat for energy resulting in high levels of ketones in the body hyperketosis. Hyperketotic hypoglycemia may only occur after prolonged fasting, such as overnight or during an illness if food intake is reduced, and can be associated with nausea and vomiting.

Benign tumors of the liver, also known as hepatic adenomas may be seen in some individuals. Affected individuals may present with a wide range of disease symptoms.

Understanding of this disease continues to evolve as more cases come to light. In some cases of GSD-IXc, more serious complications can occur such as the development scar tissue fibrosis within the liver as well as degeneration, inflammation and scarring of the liver cirrhosis.

The risk of these complications appears to be greater in GSD-IXc than in other forms of the disorder. Liver transplantation may be needed for survival in some patients who have severe liver damage. Glycogen Storage Disease Type IXd This extremely rare form of the disorder is characterized by phosphorylase kinase deficiency of the muscle.

The liver is not affected. Affected individuals may develop progressive muscle weakness, muscle degeneration atrophy , muscle cramps, abnormal muscle pain myalgia that occurs following exercise exercise-induced muscle pain , abnormal muscle stiffness following exercise and rust colored urine due to excretion of myoglobin, a muscle protein myoglobinuria.

In general, affected individuals cannot exercise at normally accepted levels exercise intolerance. The onset of symptoms can occur in childhood or adulthood; most patients have adult onset. Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms.

This form is also known as PHKA1-related phosphorylase kinase deficiency. Glycogen storage disease type IX is caused by mutations in the PHKA1 , the PHKA2 , the PHKB , or the PHKG2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body.

When a mutation is present in a gene, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.

For GSD-IX, these mutations can be inherited in either an autosomal recessive or X-linked manner. Genetic diseases are determined by the combination of genes for a particular trait. Genes are packaged in the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits an altered gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

The chance is the same for males and females. X-linked recessive genetic disorders are conditions caused by an altered gene on the X chromosome. In some cells of the body, one of the X chromosomes is inactivated, while in the remaining cells, the other X chromosome is inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder.

Carrier females usually do not display symptoms of the disorder but may have symptoms if the X chromosome with the altered gene is the one that is active in a larger proportion of cells. Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes.

A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters.

The daughters will be carriers if the other X chromosome from their mother is normal. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Investigators have determined that glycogen storage disease type GSD-IXa is caused by mutations in the PHKA2 gene, which is located on the short arm p of the X chromosome Xp This form of the disorder is inherited in an X-linked manner.

Some individuals have a mutation in this gene that causes detectable phosphorylase kinase deficiency in laboratory tests sometimes called X-linked glycogenesis type 1 or XLG1.

Other individuals have a different mutation in this gene that presumably disrupts the function of phosphorylase kinase in the body, but results in normal activity of the enzyme in laboratory tests sometimes called X-linked glycogenesis type 2 or XLG2.

Investigators have determined that glycogen storage disease type IXb is caused by mutations in the PHKB gene, which is located on the long arm q of chromosome 16 16q This form of the disorder is inherited in an autosomal recessive manner. Investigators have determined that glycogen storage disease type IXc is caused by mutations in the PHKG2 gene, which is located on the short arm p of chromosome 16 16p Investigators have determined that glycogen storage disease type IXd is caused by mutations in the PHKA1 gene, which is located on the long arm q of the X chromosome Xq The enzyme phosphorylase kinase consists of four separate pieces called subunits.

Each of the genes associated with GSD-IX contain instructions for creating encoding one of these subunits. A mutation in one of these genes results in a deficiency of functional levels of the associated protein product.

An abnormality in any of these subunits results in phosphorylase kinase deficiency, although the specific symptoms may vary. For example, mutations in the PHKA1 gene result in a deficiency of the alpha subunit of phosphorylase kinase in muscle.

This causes a deficiency of the enzyme in muscle, but not the liver. The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The X-linked forms primarily affect males, although females can have symptoms, such as enlargement of the liver and, more rarely, females can have symptoms similar to those seen in males.

GSD-IX types A, B and C are estimated to affect 1 in , individuals in the general population. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population.

Last Genetic factors in glycogen storage disease December 23, Years published: Thermogenic workout supplement,storwge,Immune-boosting exercise,facgors, NORD gratefully acknowledges Storaeg Bali, PhD, Professor, Division Genehic Medical genetics, Department diseqse Pediatrics, Duke Health; Co-Director, Biochemical Genetics Laboratories, Duke University Health System, flycogen Yuan-Tsong Chen, MD, PhD, Professor, Division Genetic factors in glycogen storage disease Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan for assistance in the preparation of this report. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I GSDI is characterized by accumulation of excessive glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. Official websites use. gov A. gov website belongs to an official government fatcors in the United Gdnetic. Genetic factors in glycogen storage disease website. Share sensitive information only on official, secure websites. Glycogen storage disease type IV GSD IV is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Genetic factors in glycogen storage disease

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