Review. Robert W. Marion, MD* 2. 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. Users with questions about a personal health condition should consult with a qualified healthcare professional. 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. Contact a GARD Information Specialist. Mutations in two genes, G6PC and SLC37A4, cause GSDI. The kidneys may also be enlarged. http://www.ncbi.nlm.nih.gov/books/NBK1312/. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. †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. December 1, 2020, Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases Glycogen storage disease type Ia and and type I non-a are genetically heterogenous disorders. Online directories are provided by the. MS; American College of Medical Genetics and Genomics. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant). 172(3):355-8. . Glycogen-storage disease type VI (GSD VI) represents a heterogeneous group of hepatic glycogenoses with mild clinical manifestations and benign course. Description. See our, URL of this page: https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i/. SE, Bean LJH, Stephens K, Amemiya A, editors. 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. This means people with GSD III have genetic changes on both copies of their AGL gene. May 21, 2020. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. Learn more. Chou JY, Mansfield BC. But there are some promising therapies, including the keto diet. Glycogen storage disease (GSD), is an inherited metabolic disorder that affects how you make and break down glycogen. MedlinePlus also links to health information from non-government Web sites. We want to hear from you. For most diseases, symptoms will vary from person to person. They may be able to refer you to someone they know through conferences or research efforts. CMAJ. 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 How are genetic conditions treated or managed? September 1, 2020, NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community 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. 2005 Aug;164(8):501-8. Treatment of Glycogen Storage Disease (GSD) Treatment depends on the type of GSD. Use the HPO ID to access more in-depth information about a symptom. 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. The estimated disease incidence for all forms of GSD in the United States is approximately 1 in 20,000 – 25,000 births. AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson Mutations in the glucose-6-phosphatase-alpha (G6PC) IEMs are often caused by single gene mutations that encode specific proteins: they are very relevant to pediatrics since these diseases may … You can find more tips in our guide, How to Find a Disease Specialist. Most are diagnosed in childhood. The HPO Please note that the table may not include all the possible conditions related to this disease. 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 … of glycogen storage disease type I: a practice guideline of the American College Diagnosis and management Do you know of a review article? Children's Fund for Glycogen Storage Disease Research, Inc. International Association for Muscle Glycogen Storage Disease (IamGSD), https://www.metabolicsupportuk.org/contact-us. Some genotype-p … gene that cause type Ia glycogen storage disease. Broadly speaking, the GSDs can be divided into hepatic or myopathic forms. This is the first reported animal model of human glycogen storage disease type IV. 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. Curr Opin Hematol. Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism (IEM) involving carbohydrate metabolism. Glycogen storage disease type 3 (GSDIII) is inherited in an autosomal recessive … Neutropenia in type Ib glycogen storage We remove all identifying information when posting a question to protect your privacy. disease. Patients typically exhibit prominent hepatomegaly, growth retardation, and variable but mild episodes of fasting hypoglycemia and hyperketosis during childhood. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Tarui Disease (GSD-VII) is another type of glycogen storage disease with autosomal recessive inheritance. 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. Chou JY, Jun HS, Mansfield BC. It’s rare, but those who have it suffer severe health consequences. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Review. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Clinical Features Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. ABSTRACT: Glycogen storage disease type IV due to branching enzyme deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed … Do you have more information about symptoms of this disease? We want to hear from you. If you do not want your question posted, please let us know. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. 3 Glycogen storage disease type II – Pompe disease. The glycogen found in these disorders is abnormal in quantity, quality, or both. You may want to review these resources with a medical professional. As they get older, children with GSDI have thin arms and legs and short stature. 2014 Nov;16(11):e1. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa. You can help advance Glycogen Storage Disease Type I. Esma Paljevic, PNP† 1. Most parents do not show any signs of GSD. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Have a question? Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). In: Adam MP, Ardinger HH, Pagon RA, Wallace Glycogen is the storage form of glucose in our bodies. Too much glycogen and fat stored within a cell can be toxic. Visit the group’s website or contact them to learn about the services they offer. They can direct you to research, resources, and services. Eur J Hum Genet. The disorder was initially described by Johannes Pompe in 1932 . This information comes from a database called the Human Phenotype Ontology What is the prognosis of a genetic condition? Differential diagnoses include the other forms of glycogen storage diseases (see these terms). The overall incidence of GSDI is 1 in 100,000 individuals. Glycogen storage diseases (GSDs) (glycogenoses) are inborn metabolic disorders characterized by defects in enzymes or transport proteins that affect glycogen metabolism. literature. 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. 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. Mode of Inheritance of Glycogen Storage Diseases Inheritance of enzyme defects are by rule Autosomal Recessive. 2005 Feb 1. rare disease research! Epub 2005 May 19. Review. All are autosomal recessive diseases except Phosphorylase kinase deficiency (Glycogens storage disease type IXa, IXb) which is not mentioned above.