Last updated: December 23, Glycogeh published:,typw, NORD Glycoven acknowledges Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Dusease Health; Co-Director, Glycogen storage disease type Genetics Diesase, Duke University Health System, and Yuan-Tsong Tjpe, MD, PhD, Professor, Division of Dieease Genetics, Department of Pediatrics, Storate Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan diseass assistance in the preparation of this report.
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Type I glycogen storage disease is Energy efficiency solutions with abnormalities in two genes. Supports gut health naturally type of GSDI is termed glycogen storage disease type Ia.
This type of GSDI is termed glycogen storage disease type Ib. Both these enzyme deficiencies cause excess amounts of glycogen along with fats to be stored in the body tissues. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.
If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk is the same for males and females. Type I glycogen storage disease occurs in approximately 1 inbirths. The prevalence of GSDI in Ashkenazi Jews is approximately 1 in 20, This condition affects males and females in equal numbers in any given population group.
Symptoms of the following disorders can be similar to those of glycogen storage disease type I. 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.
Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase debrancher enzyme. This enzyme deficiency causes excessive amounts of an abnormally digested glycogen the stored form of energy that comes from carbohydrates to be deposited in the liver, muscles and, in some cases, the heart.
In the first few months some symptoms may overlap with GSDI elevated lipids, hepatomegaly, low glucose. Andersen disease GSD-IV also known as glycogen storage disease type IV; This GSD is also inherited as an autosomal recessive trait.
In most affected individuals, symptoms and findings become evident in the first few years of life. Such features typically include failure to grow and gaining weight at the expected rate failure to thrive and abnormal enlargement of the liver and spleen hepatosplenomegaly. Hers disease GSD-VI is also called glycogen storage disease type VI.
It usually has milder symptoms than most other types of glycogen storage diseases. It is caused by a deficiency of the enzyme liver phosphorylase. Hers disease is characterized by enlargement of the liver hepatomegalymoderately low blood sugar hypoglycemiaelevated levels of acetone and other ketone bodies in the blood ketosisand moderate growth retardation.
Symptoms are not always evident during childhood, and children are usually able to lead normal lives. However, in some instances, symptoms may be severe. Glycogen storage disease IX is caused due to deficiency of phosphorylase kinase enzyme PK enzyme deficiency.
The disorder is characterized by slightly low blood sugar hypoglycemia. Excess amounts of glycogen the stored form of energy that comes from carbohydrates are deposited in the liver, causing enlargement of the liver hepatomegaly.
Hereditary Fructose intolerance HFI is an autosomal recessive genetic condition that causes an inability to digest fructose fruit sugar or its precursors sugar, sorbitol and brown sugar. This is due to a deficiency of activity of Glycogeb enzyme fructosephosphate aldolase Aldolase Bresulting in an accumulation of fructosephosphate in the liver, kidney, and small intestine.
Fructose and sucrose are naturally occurring sugars that are used as sweeteners in many foods, including many baby foods. This disorder can be life threatening in infants and ranges from mild to severe in older children and adults. GSD type I is diagnosed by laboratory tests that indicate abnormal levels of glucose, lactate, uric acid, triglycerides and cholesterol.
Molecular genetic testing for the G6PC and SLC37A4 genes is available to confirm a diagnosis. Molecular genetic testing can also be used for carrier testing and prenatal diagnosis.
Liver biopsy can also be used to prove specific enzyme deficiency for GSD Ia. Treatment GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development.
Frequent small servings of carbohydrates must be maintained during the day and night throughout the life. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. Frequent feedings of uncooked cornstarch are used to maintain and improve blood levels of glucose. 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.
Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients. Liver tumors adenomas can be treated with minor surgery or a procedure in which adenomas are ablated using heat and current radiofrequency ablation.
Individuals with GSDI should be monitored at least annually with kidney and liver ultrasound and routine blood work specifically used for monitoring GSD patients. Information on current clinical trials is posted on the Internet at www.
All studies receiving U. government funding, and some supported by private industry, are posted on this government web site. For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office:.
Tollfree: TTY: Email: prpl cc. For information about clinical trials sponsored by private sources, contact: www. TEXTBOOKS Chen YT, Bali DS. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism. In: Milunsky A, Milunsky J, eds.
Genetic disorders and the fetus — diagnosis, prevention, and treatment. West Sussex, UK: Wiley-Blackwell; Chen Y. Glycogen storage disease and other inherited disorders of carbohydrate metabolism. In: Kasper DL, Braunwald E, Fauci A, et al. New York, NY: McGraw-Hill; Weinstein DA, Koeberl DD, Wolfsdorf JI.
Type I Glycogen Storage Disease. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott, Williams and Wilkins; JOURNAL ARTICLES Chou JY, Jun HS, Mansfield BC.
J Inherit Metab Dis. doi: Epub Oct 7. 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.
: Glycogen storage disease type| Glycogen storage disease type I | CAS PubMed Google Scholar Coleman RA, Winter HS, Wolf B, Chen YT. Epub Jun 3. Diseases can disrupt glycogen metabolism secondary to the primary disease. It usually has milder symptoms than most other types of glycogen storage diseases. In some cases, an overnight tube feeding, typically via a naso-gastric tube, is required to provide a continuous delivery of glucose. |
| Von Gierke: Facts, Causes & Treatment | Surgery Cardiac surgery Cardiothoracic surgery Endocrine surgery Eye surgery General surgery Colorectal surgery Digestive system surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery. The kidneys may also be enlarged. However, hepatic adenomas in GSD I uniquely involve diffuse Mallory hyaline deposition, which is otherwise commonly observed in focal nodular hyperplasia. Show details Treasure Island FL : StatPearls Publishing ; Jan-. Association for Glycogen Storage Disease A parent- and patient-oriented support group that shares information about the disease, pushes for research, and maintains a listserv to contact other members. This type of GSD does not cause hypoglycemia. |
| Glycogen Storage Disease Type I | This guideline is intended as an educational resource. Short stature or poor linear growth, especially in a child with hypoglycemia, should warrant workup for glycogen storage disorders. Cornelio F, Bresolin N, Singer PA, DiMauro S, Rowland LP. Fertility is not thought to be reduced. Binkiewicz A, Senior B. How Is Glycogen Storage Disease Type Ib Treated? In severe cases, especially in infancy, when it is hard to maintain normal BG levels, continuous overnight enteral feedings may be required. |
| StatPearls [Internet]. | Description Glycogen storage disease type V also known as GSDV or McArdle disease is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. Frequency GSDV is a rare disorder; however, its prevalence is unknown. Causes Mutations in the PYGM gene cause GSDV. Learn more about the gene associated with Glycogen storage disease type V PYGM. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Other Names for This Condition Glycogen storage disease type 5 Glycogenosis 5 GSD type V GSD V McArdle disease McArdle syndrome McArdle type glycogen storage disease McArdle's disease Muscle glycogen phosphorylase deficiency Muscle phosphorylase deficiency Myophosphorylase deficiency PYGM deficiency. Genetic and Rare Diseases Information Center Glycogen storage disease type 5. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD. Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE V; GSD5. Scientific Articles on PubMed PubMed. References Aquaron R, Berge-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J. Molecular characterization of myophosphorylase deficiency McArdle disease in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord. doi: Epub Feb Citation on PubMed Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. Citation on PubMed Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. J Neurol. Epub Apr 3. Citation on PubMed Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M. Clinical and molecular characterization of McArdle's disease in Brazilian patients. Neuromolecular Med. Epub May 8. Citation on PubMed Lucia A, Nogales-Gadea G, Perez M, Martin MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. Citation on PubMed Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, Garcia-Consuegra I, Cabello A, Perez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry. Epub Jan These symptoms are especially noticeable in infants. Since people with GSD I are able to store glucose as glycogen but unable to release it normally, stores of glycogen build up in the liver over time and cause it to swell. The liver is able to perform many of its other functions normally, and there is no evidence of liver failure. The kidneys also become enlarged because of increased glycogen storage. Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen. Blood tests may indicate low blood sugar concentration and higher than normal levels of lipids and uric acid. GSD I is an inherited genetic disorder which causes the deficiency of one of the enzymes that work together to help the body break down the storage form of sugar glycogen into glucose, which the body uses to keep blood sugar stable when a person is not eating. Children with GSD I are usually diagnosed between 4 and 10 months of age. Testing will most likely include blood tests, imaging tests such as ultrasound to measure the liver and kidneys, and possibly a genetic test or liver biopsy. The treatment of type I glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of the child. A combination of uncooked cornstarch mixed in water, soy formula, or soy milk is often recommended. Cornstarch is digested slowly, so it provides a steady release of glucose in between feedings. Current treatments consist of providing small, frequent feedings during the day. Most doctors agree that certain sugars should be restricted, but the degree of restriction is still debated. In some cases, an overnight tube feeding, typically via a naso-gastric tube, is required to provide a continuous delivery of glucose. GSD I is an inherited genetic disorder. The effects of the disease are apparent very early in childhood. Clinical trials are research studies that test how well new medical approaches work in people. Before an experimental treatment can be tested on human subjects in a clinical trial, it must have shown benefit in laboratory testing or animal research studies. The most promising treatments are then moved into clinical trials, with the goal of identifying new ways to safely and effectively prevent, screen for, diagnose, or treat a disease. Speak with your doctor about the ongoing progress and results of these trials to get the most up-to-date information on new treatments. Participating in a clinical trial is a great way to contribute to curing, preventing and treating liver disease and its complications. Start your search here to find clinical trials that need people like you. |
| glycogen storage disease type Ib | This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Glycogen storage disease type I. Description Glycogen storage disease type I also known as GSDI or von Gierke disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Frequency The overall incidence of GSDI is 1 in , individuals. Causes Mutations in two genes, G6PC and SLC37A4 , cause GSDI. Learn more about the genes associated with Glycogen storage disease type I G6PC SLC37A4. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Other Names for This Condition Glucosephosphate deficiency Glucosephosphate transport defect GSD I GSD type I Hepatorenal form of glycogen storage disease Hepatorenal glycogenosis Von Gierke disease Von Gierke's disease. Genetic and Rare Diseases Information Center Glycogen storage disease type 1A Glycogen storage disease type 1B. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD. Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE Ia; GSD1A GLYCOGEN STORAGE DISEASE Ib; GSD1B. Scientific Articles on PubMed PubMed. References Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Glycogen Storage Disease Type I. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews R [Internet]. Seattle WA : University of Washington, Seattle; Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol. doi: New York, NY: McGraw-Hill; Weinstein DA, Koeberl DD, Wolfsdorf JI. Type I Glycogen Storage Disease. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott, Williams and Wilkins; JOURNAL ARTICLES Chou JY, Jun HS, Mansfield BC. J Inherit Metab Dis. doi: Epub Oct 7. 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; Many different enzymes are used by the body to process glycogen. As a result, there are several types of GSD. This type of GSD does not cause hypoglycemia. A thorough medical history can also lead the doctor to suspect GSD since it is inherited. Other diagnostic tests may include:. Each type of GSD centers on a certain enzyme or set of enzymes involved in glycogen storage or break down. GSD mostly affects the liver and the muscles, but some types cause problems in other areas of the body as well. Types of GSD with their alternative names and the parts of the body they affect most include:. GSD types VI and IX can have very mild symptoms and may be underdiagnosed or not diagnosed until adulthood. Currently, there is no cure for GSD. Treatment will vary depending on what type of GSD your child has; however, the overall goal is to maintain the proper level of glucose in the blood so cells have the fuel they need to prevent long-term complications. Until the early s, children with GSDs had few treatment options and none were very helpful. Then it was discovered that ingesting uncooked cornstarch regularly throughout the day helped these children maintain a steady, safe glucose level. Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it acts as a slow release carbohydrate and maintains normal blood glucose levels for a longer period of time than most carbohydrates in food. Cornstarch therapy is combined with frequent meals eating every two to four hours of a diet that restricts sucrose table sugar , fructose sugar found in fruits and lactose only for those with GSD I. Typically, this means no fruit, juice, milk or sweets cookies, cakes, candy, ice cream, etc. because these sugars end up as glycogen trapped in the liver. Infants need to be fed every two hours. Those who are not breastfed must take lactose-free formula. Some types of GSD require a high-protein diet. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. |
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