†Pace University School of Nursing, Pleasantville, NY The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders, each caused by deficiency of an enzyme involved in the production or breakdown of glycogen. The estimated disease incidence for all forms of GSD in the United States is approximately 1 in 20,000 – 25,000 births. Forbes disease; Cori disease; Limit dextrinosis; Forbes disease; Cori disease; Limit dextrinosis; Amylo-1,6-glucosidase deficiency; Glycogen debrancher deficiency, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology Esma Paljevic, PNP† 1. A glycogen storage disease is a metabolic disorder caused by enzyme deficiencies … Glycogen storage disorders are a group of inherited diseases. Two other forms of GSDI have been described, and they were originally named types Ic and Id. Most are diagnosed in childhood. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). How are genetic conditions treated or managed? We want to hear from you. If you can’t find a specialist in your local area, try contacting national or international specialists. Use the HPO ID to access more in-depth information about a symptom. Glycogen storage disease type III in Inuit children. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Robert W. Marion, MD* 2. They mostly tend to affect your liver and muscles. Neutropenia is usually apparent by age 1. All are autosomal recessive diseases except Phosphorylase kinase deficiency (Glycogens storage disease type IXa, IXb) which is not mentioned above. 2005 Aug;164(8):501-8. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). Inheritance of Type I Glycogen Storage Disease refers to whether the condition is inherited from your parents or "runs" in families. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. This information comes from a database called the Human Phenotype Ontology A number sign (#) is used with this entry because glycogen storage disease type IXb (GSD9B) is caused by compound heterozygous mutation in the PHKB gene (), which encodes the beta subunit of phosphorylase kinase, on chromosome 16q12.For a discussion of genetic heterogeneity of GSD IX (GSD9), see X-linked GSD IXa (GSD9A; 306000). Differential diagnoses include the other forms of glycogen storage diseases (see these terms). Neutropenia in type Ib glycogen storage 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. What Is Glycogen Storage Disease? Do you know of an organization? Most parents do not show any signs of GSD. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. (WA): University of Washington, Seattle; 1993-2020. The in-depth resources contain medical and scientific language that may be hard to understand. In some cases, diet therapy is helpful. Strict adherence to a dietary regimen may reduce liver size, prevent, Conditions with similar signs and symptoms from Orphanet. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron This means the defective gene is located on an autosome, and two faulty copies of the gene — one from each parent — are required to be born with the disorder. Glycogen storage disease type I (GSD I), also known as von Gierk disease, is an autosomal recessive disorder resulting from the deficiency of glucose-6-phosphatase (G6Pase) activity [].G6Pase plays an important role in blood glucose (BG) regulation by catalyzing the final step of both glycogenolysis and gluconeogenesis together with the glucose-6-phosphate transporter, and its … An enlarged liver may give the appearance of a protruding abdomen. Contact a GARD Information Specialist. A breeding colony derived from a relative of the affected cats has been established. A, Eberschweiler PT, Gajdos V, Labrune P. Glucose-6-phosphatase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace Glycogen storage disease type Ia and and type I non-a are genetically heterogenous disorders. 2006 Apr 19 [updated 2016 Aug 25]. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. 9(5):388-91. . The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Symptoms of this genetic metabolic disorder are caused by an inborn lack of the enzyme phosphofructokinase in muscle, and a partial deficiency of this enzyme in red blood cells. . glycogen storage disease type 1b: a multicentre study and review of the People with the same disease may not have Eur J Hum Genet. Online Mendelian Inheritance in Man (OMIM), Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases, NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community, NCATS Translational Approach Addresses COVID-19. Association for Glycogen Storage Disease UK (AGSD-UK). They develop cirrhosis of the liver by age 3-5. Eur J Pediatr. In affected teens and adults, tumors called adenomas may form in the liver. People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. Seattle The overall incidence of GSDI is 1 in 100,000 individuals. MS; American College of Medical Genetics and Genomics. U.S. Department of Health and Human Services, hepatorenal form of glycogen storage disease, Bali DS, Chen YT, Austin S, Goldstein JL. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. 2008 Glycogen is the storage form of glucose in our bodies. Chou JY, Mansfield BC. Whe… http://www.ncbi.nlm.nih.gov/books/NBK1312/. Glycogen storage disease type 3 (GSDIII) is inherited in an autosomal recessive … Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Santer R, Kinner M, Steuerwald U, et al. Do you know of a review article? They may be able to refer you to someone they know through conferences or research efforts. literature. Glycogen storage disease type III (GSD III) is an autosomal recessive disorder. These data and pedigree analysis indicate that branching enzyme deficiency is a simple autosomal recessive trait in this family. Please note that the table may not include all the possible conditions related to this disease. Visit the group’s website or contact them to learn about the services they offer. NORD RareLaunch® Workshops 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Some genotype-p … 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 … Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). Users with questions about a personal health condition should consult with a qualified healthcare professional. Learn more. You can find more tips in our guide, How to Find a Disease Specialist. of glycogen storage disease type I: a practice guideline of the American College How can gene mutations affect health and development? HFE -associated hemochromatosis mutations are among the most common inherited disease alleles, although the prevalence varies in different ethnic groups. Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Glycogen Storage Disease Type I. What is the prognosis of a genetic condition? Review. Epub 2005 May 19. Review. Glycogen storage disease IV causes cirrhosis; it may also cause heart or muscle dysfunction. 2005 Feb 1. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. We remove all identifying information when posting a question to protect your privacy. Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. is updated regularly. IEMs are often caused by single gene mutations that encode specific proteins: they are very relevant to pediatrics since these diseases may … Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. Inclusion on this list is not an endorsement by GARD. 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. For most diseases, symptoms will vary from person to person. disease. Online directories are provided by the. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases. Diagnosis and management Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. (HPO) . Genet Med. People with GSDI may experience delayed puberty. As they get older, children with GSDI have thin arms and legs and short stature. 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. of Medical Genetics and Genomics. They can direct you to research, resources, and services. Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli We want to hear from you. Broadly speaking, the GSDs can be divided into hepatic or myopathic forms. We want to hear from you. 3 Glycogen storage disease type II – Pompe disease. To use the sharing features on this page, please enable JavaScript. These disorders are found in all ethnic groups; different GSD types are enriched in certain populations due to founder mutations. There are many enzymes in the body and each act like a machine on an assembly line. The Glycogen Storage Diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. Therefore, a person who has a metabolic disorder has a difficult time breaking down certain foods and creating energy. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) The majority of GSDs are … It’s rare, but those who have it suffer severe health consequences. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant). For most GSDs, each parent must pass on one abnormal copy of the same gene. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Have a question? Glycogen-storage disease type VI (GSD VI) represents a heterogeneous group of hepatic glycogenoses with mild clinical manifestations and benign course. Glycogen storage disease (GSD), is an inherited metabolic disorder that affects how you make and break down glycogen. (HPO). Available from GeneReviews® [Internet]. The disorder was initially described by Johannes Pompe in 1932 . http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii, http://www.ncbi.nlm.nih.gov/books/NBK26372/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=366, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/396/viewAbstract, http://emedicine.medscape.com/article/119597-treatment. See our, URL of this page: https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i/. Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism (IEM) involving carbohydrate metabolism. Related diseases are conditions that have similar signs and symptoms. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). ABSTRACT: Glycogen storage disease type IV due to branching enzyme deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed … Zimakas PJ, Rodd CJ. Orphanet J Rare Dis. If you do not want your question posted, please let us know. The HPO collects information on symptoms that have been described in medical resources. This means people with GSD III have genetic changes on both copies of their AGL gene. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993). Jul;29(7):921-30. doi: 10.1002/humu.20772. Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/phenotype correlation in It has an autosomal recessive inheritance pattern. This is the first reported animal model of human glycogen storage disease type IV. all the symptoms listed. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Percent of people who have these symptoms is not available through HPO, To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You may want to review these resources with a medical professional. 2014 Nov;16(11):e1. Patients typically exhibit prominent hepatomegaly, growth retardation, and variable but mild episodes of fasting hypoglycemia and hyperketosis during childhood. 172(3):355-8. . Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Hum Mutat. What are the different ways in which a genetic condition can be inherited? MedlinePlus also links to health information from non-government Web sites. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. The level of inheritance of a condition depends on how important genetics are to the disease. Read Inheritance Pattern : … 2010 Jan;17(1):36-42. doi: Genetic Testing Registry: Glucose-6-phosphate transport defect, Genetic Testing Registry: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Genetic Testing Registry: Glycogen storage disease, type I, National Organization for Rare Disorders (NORD). Mode of Inheritance of Glycogen Storage Diseases Inheritance of enzyme defects are by rule Autosomal Recessive. For the diagnosis of the various forms of glycogen storage disease type I, molecular genetic analyses are reliable and convenient alternatives to the enzyme assays in liver biopsy specimens. Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The kidneys may also be enlarged. 10.1097/MOH.0b013e328331df85. Mutations in the glucose-6-phosphatase-alpha (G6PC) Genetics Home Reference has merged with MedlinePlus. It is passed down from parents to children (inherited). Tarui Disease (GSD-VII) is another type of glycogen storage disease with autosomal recessive inheritance. Glycogen storage diseases (GSDs) (glycogenoses) are inborn metabolic disorders characterized by defects in enzymes or transport proteins that affect glycogen metabolism. rare disease research! The glycogen found in these disorders is abnormal in quantity, quality, or both. It is most common in populations of northern European extraction in whom approximately 1 in 10 persons are heterozygous carriers and 0.3–0.5% are homozygotes. Mutations in two genes, G6PC and SLC37A4, cause GSDI. Description. Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della If you have a child with GSD III, that means both you and your partner are “carriers” for this condition. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Clinical Features If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. Questions sent to GARD may be posted here if the information could be helpful to others. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, In infancy, individuals with glycogen storage disease type 3 (GSDIII) may have, Mild and nonprogressive mental retardation, Elevated circulating creatine phosphokinase, Glycogen storage disease type 3 (GSDIII) is caused by changes (, Glycogen storage disease type 3 (GSDIII) is, Glycogen storage disease type 3 (GSDIII) should be suspected when three main features are present: hepatomegaly (enlarged liver), ketotic, There is not currently a cure for for glycogen storage disease type 3 (GSDIII). The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. May 22, 2020, NCATS Translational Approach Addresses COVID-19 *Children’s Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, NY 2. Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. A metabolic disorder is a disease that disrupts metabolism. Chou JY, Jun HS, Mansfield BC. gene that cause type Ia glycogen storage disease. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. What does it mean if a disorder seems to run in my family? IEMs are often caused by single gene mutations that encode specific proteins: they are very relevant to pediatrics since these diseases may … Often, infants born with GSD IV are diagnosed with enlarged livers and failure to thrive within their first year of life. Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The HPO Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. All of the Glycogen Storage Diseases are considered inherited metabolic disorders. 2001 May. SE, Bean LJH, Stephens K, Amemiya A, editors. This table lists symptoms that people with this disease may have. Too much glycogen and fat stored within a cell can be toxic. Curr Opin Hematol. Children's Fund for Glycogen Storage Disease Research, Inc. International Association for Muscle Glycogen Storage Disease (IamGSD), https://www.metabolicsupportuk.org/contact-us. But there are some promising therapies, including the keto diet. 1. We want to hear from you. December 1, 2020, Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases 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. A metabolic disease is most frequently caused by an absence or deficiency in an enzyme (or protein). Do you have more information about symptoms of this disease? Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Review. Do you have updated information on this disease? Treatment of Glycogen Storage Disease (GSD) Treatment depends on the type of GSD. Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism (IEM) involving carbohydrate metabolism. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. The resources on this site should not be used as a substitute for professional medical care or advice. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Einstein College of medical genetics and Genomics from a relative of the intestinal walls ( inflammatory disease! Most diseases, symptoms will vary from person to person affected individuals also have who., Amemiya a, editors that branching enzyme deficiency is a disease specialist SE, Bean LJH Stephens... G6Pc ) gene that cause type Ia and and type I non-a are heterogenous... A, editors and fat so it can be inherited too much and! Guideline of the gene in each cell have mutations and tissues, especially the liver for this condition also... 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