glycogen storage disease symptoms

[neuromuscular.wustl.edu], GSD should be suspected in a child with unexplained hepatomegaly and investigated accordingly. The common features, particularly for type I, include: Abnormally slow growth which may be … For most diseases, symptoms will vary from person to person. Typical symptoms … 2001;1(1):25-44. Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms. An enlarged liver is linked to low blood glucose levels because excess glycogen is stored in the liver instead of being released as glucose in the blood stream. 3 Glycogen storage disease type II – Pompe disease. Symptoms of the following disorders can be similar to those of glycogen storage disease type IX. On the other hand, skeletal glycogenoses (types V, VII) are characterized by muscle cramping, fatigue, myoglobinuria during strenuous exercise and anemia. Know the causes, symptoms, treatment and diagnosis of Forbes Disease. Liver enlargement, increased circulating values of lipids, and decreased blood sugar are the most common manifestations of GSDs, while muscle cramping, profound fatigue and weakness are also frequently encountered. The prognosis of patients with GSDs significantly depend on the subtype. 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 … Andreu A, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. [slideshare.net], Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). [nejm.org], Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. [ncbi.nlm.nih.gov], Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and respiratory insufficiency. Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). We remove all identifying information when posting a question to protect your privacy. For some GSDs, moderate exercise, vitamin supplementation and appropriate dietary changes are only options. Glycogen storage disease (GSD) is a rare, genetic condition in which the body is unable to use or store glycogen, a main source of energy. 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. Glycogen is further stored until the tissues in which it is stored reach maximal capacity (which is impaired in patients suffering from type IV GSD, as the enzyme responsible for its assembly, branching enzyme is deficient), but its conversion back to glucose in metabolic needs is an important source of fuel and provided rapid energy utilization. This information comes from a database called the Human Phenotype Ontology Acta Myologica. Incidence and prevalence rates significantly depend on the subtype, but overall estimations suggest that 1 per 25,000 individuals develop some form of GSD [11]. [cjasn.asnjournals.org], In fact, consuming carbohydrates exacerbates exercise intolerance because glucose decreases the blood concentration of alternative fuels such as free fatty acids and ketones by increasing insulin concentrations. If you do not want your question posted, please let us know. 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). GSD Ia is caused by a deficiency in the enzyme glucose-6-phosphatase, while GSD Ib is caused a deficiency in the enzyme gl Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. [ceaccp.oxfordjournals.org], […] glucose transporter Probably same as Ic GSD II (Pompe disease, 232300) Onset: Infancy, childhood, or adulthood; residual enzyme activity in child and adult forms Clinical features: In infantile form, cardiomyopathy with heart failure, severe hypotonia, macroglossia [orpha.net], […] into alternative pathways resulting in 3 major metabolic consequences: [2] Hyperlacticacidemia, which develops as a byproduct of enhanced glycolysis Hyperuricemia, which arises due to shunting of glucose-6-phosphate into the pentose phosphate pathway Hypertriglyceridemia Strict adherence to a dietary regimen may reduce liver size, prevent, Conditions with similar signs and symptoms from Orphanet. The Association for Glycogen Storage Disease - AGSD - was established in 1979 in order to create an organization which would be a focus for parents of and individuals with glycogen storage disease … Symptoms may become evident after about five to seven months of age, but the disorder more commonly manifests within the womb, causing stillbirth or death soon after birth, primarily from hypoglycemia. Liver disease is present in patients with type I, III, IV, VI, IX, XI, and 0, hepatomegaly being the most prominent symptom [12]. Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. People with GSDI may experience delayed puberty. The accumulation of glycogen in certain organs and tissues, especially … Visit the group’s website or contact them to learn about the services they offer. Hypoglycemia, hyperlipidemia and growth retardation are commonly observed, but some symptoms are specific for certain subtypes, such as elevated blood lactate (type I), profound neutropenia (type Ib), ketosis (types VI and 0) and cardiomyopathy (type II). Use the HPO ID to access more in-depth information about a symptom. People with the same disease may not have Children's Fund for Glycogen Storage Disease Research, Inc. International Association for Muscle Glycogen Storage Disease (IamGSD), https://www.metabolicsupportuk.org/contact-us. They can direct you to research, resources, and services. Many patients, however, suffer a poor prognosis, as several subtypes can be fatal within years due to heart or liver failure, which is why early recognition of this disease is imperative in prolonging survival rates. Hers disease, also known as glycogen storage disease type VI (GSD-VI), is a rare genetic disorder characterized by deficiency of the liver glycogen … Today, more than 20 glycogen storage diseases (GSDs) are described in literature and they all cause the same metabolic disturbance - disruption of normal glycogen storage and inability of the body to utilize this source of energy for its needs. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Type I Glycogen Storage Disease accounts for about 25% of all cases of GSD diagnosed in the USA and in Europe and has an estimated incidence of about 1 in 100,000 live births. Type Ib patients may develop recurrent infections that can be fatal due to persistent neutropenia, while Pompe disease is often fatal during childhood due to respiratory and cardiac failure [4] [13]. Curr Mol Med. Explore symptoms, inheritance, … Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). The symptoms and severity of symptoms vary between each type of glycogen storage disorder. Although exact enzyme deficiencies have been determined in virtually all subtypes, prevention of GSDs is currently not possible, as the triggers that are responsible for their development are unknown. Maintenance of blood glucose through introduction of corn starch is highly effective for type III and type I, although fructose and galactose intake should be limited for type I patients. Some GSDs affect mostly the liver. is updated regularly. Ninth edition. The enzyme defect results in severe fasting hypoglycemia, In fact, consuming carbohydrates exacerbates exercise intolerance because, Management of type I depends on symptomatic therapy and dietary changes that comprise introduction of raw, uncooked cornstarch, which is profoundly effective in correcting, Adequate dietary management of hypoglycemia is sufficient for the majority of patients, Treatment of type IV (Andersen disease) GSD relies on palliative care, since a, Type II (Pompe disease) develops as a result of acid alpha-glucosidase deficiency, a glycogen-degrading lysosomal enzyme, for which it is often classified into the group of lysosomal storage diseases (LSDs) [4]. The accumulation of glycogen … Contact a GARD Information Specialist. Related diseases are conditions that have similar signs and symptoms. Harrison's Principles of Internal Medicine, 18e. Treatment of Glycogen Storage Disease … Merck Manual of Diagnosis and Therapy. Enzyme deficiencies occur as a result of genetic mutations that are transferred from parent to their child through an autosomal recessive pattern of inheritance. There are four symptoms that might cause the doctor to suspect a type of GSD that affects the liver. [emedicine.medscape.com], Diagnostic methods Diagnosis is based on clinical presentation, and glycemia and lactacidemia levels, after a meal (hyperglycemia and hypolactacidemia), and after three to four hour fasting (hypoglycemia and hyperlactacidemia). 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. (HPO). Merck Sharp & Dohme Corp. Whitehouse Station, N.J; 2011. Pompe disease (type II) has a distinct clinical presentation, encompassing both muscular and hepatic manifestations, together with rapidly progressive cardiac and respiratory failure [4]. Deficiency of phosphofructokinase is the main pathological mechanism [8]. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Symptoms of low blood glucose, or hypoglycemia, include sweating, tremor, drowsiness, confusion, and, sometimes, seizures. Clinical presentation somewhat depends on the type of GSD and a broad classification into liver and muscle glycogenoses aids the physician in differentiating between various forms [8]. All of these enzymes are deficient in certain types of GSDs, with the common end-result being inability of the liver and muscles to degrade glycogen and provide the necessary energy for metabolic functions, which manifests in a variety of symptoms, depending on the subtype and the severity of enzyme deficiency. Differential diagnoses include the other forms of glycogen storage diseases (see these terms). There are numerous forms of glycogen storage diseases, but the common end-result is inability to store glycogen in either the liver and/or muscles due to enzyme deficiencies that are transmitted by an autosomal recessive pattern of inheritance. 2007;26(1):53-57. [ncbi.nlm.nih.gov], Most affected individuals exhibit resolution of hepatomegaly, hypotonia, muscle weakness, risk of fasting hypoglycemia, and abnormal biochemical parameters before or at puberty. 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. The iron-storage pigment in tissues is called hemosiderin because it was believed to be ... and genetic factors interact to cause disease. For most GSDs, each … Treatment principles almost strictly depend on the type of GSD: Management of hypoglycemia through dietary changes and additional symptoms is imperative for other GSDs, but in general, this approach is favored across all subtypes so that the metabolic needs for glycogen and energy are fulfilled. [msdmanuals.com], Neonatal Cardiac PR interval: Short Congestive heart failure Cardiomyopathy: Vacuolar; Cardiomegaly, Biventricular hypertrophy Glycogen: Increased in myocardium Phosphorylase kinase activity: Absent in myocardium Respiratory Failure Pulmonary edema Macroglossia If your child's doctor suspects a glycogen storage diseases, he or she will ask about your child's symptoms … [doi.org]. These types (except for GSD type 0) may cause the liver to become enlarged. Up to today, 23 GSDs have been established [2], and are classified into [1-15]: Although each type is distinguished by deficiency of different enzymes, signs and symptoms that reflect hepatic and skeletal pathology without an evident cause can rise clinical suspicion. GSDs roughly develop in approximately 1 per 25,000 individuals and gender distribution is mostly equal. These include: A low blood glucose … Association for Glycogen Storage Disease UK (AGSD-UK). New York, NY: McGraw-Hill; 2012. Based on clinical symptoms, GSDs are roughly divided into those that involve the liver and those in whom symptoms are mostly related to skeletal muscles, but both organs may be affected across various types. Symptoms and complications vary depending on the specific type of glycogen storage disease. They develop cirrhosis of the liver by age 3-5. On the other hand, enzyme supplementation has been introduced to patients suffering from type II GSD and has markedly improved patient outcomes [4]. We want to hear from you. Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by … Often, infants born with GSD IV are diagnosed with enlarged livers and failure to thrive within their first year of life. Patients with the classic infantile form of Pompe disease are the most severely affected. Questions sent to GARD may be posted here if the information could be helpful to others. Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. The liver and the skeletal muscles are sites where glycogen can be stored, but in the setting of various GSDs, enzymes that are involved in its creation from glucose are deficient. Glycogen storage disease type I is an inherited disease that results in the liver being unable to properly break down stored glycogen. [ncbi.nlm.nih.gov], We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. 2002;39(2):103-106. Type XI (Fanconi-Bickel syndrome) is an extremely rare GSD that develops due to impaired function of glucose transporters (GLUT2) [9]. The in-depth resources contain medical and scientific language that may be hard to understand. Manzia TM, Angelico R, Toti L, Cillis A, Ciano P, Orlando G, Anselmo A, Angelico M, Tisone G. Glycogen storage disease type Ia and VI associated with. A definite diagnosis can be made by either biopsy or genetic testing for deficient enzymes. Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodriguez-Rombo P, et al. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. Consequently, intralysosomal accumulation of glycogen occurs and causes a severe clinical presentation consisting of cardiac and, Type III (known as either Forbes of Cori disease) is characterized by glycogen debranching enzyme deficiency, which is essential for glycogen degradation from the liver and muscles. Please note that the table may not include all the possible conditions related to this disease. Some types (I and VI) have been associated with hepatocellular carcinoma [14]. Typical symptoms include weakness, sweating, confusion, … Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive. Although hardly any symptoms may be apparent at birth, the disease … Genetic counseling may be advisable for families with first-degree relatives that have GSDs, but prevention strategies should be focused on ensuring long-term management through adequate treatment. The gold standard, however, is either biopsy or detection of reduced enzymatic activity in the target tissue, while magnetic resonance imaging (MRI) can provide important clues as well [11]. Semin Hematol. [ncbi.nlm.nih.gov], At age 18 years of age, she had marked hypertriglyceridemia (3860 mg/dL) and eruptive xanthomas and was treated with fenofibrate, atorvastatin, and fish oil. These resources provide more information about this condition or associated symptoms. Porter RS, Kaplan JL. Making the diagnosis of GSD may be difficult, but patients with progressive liver disease and/or muscle cramping, fatigue and poor general condition without an identifiable cause, a high suspicion to one of the GSDs should be present. Symptoms typically appear when an infant is 3 to 4 months of age … 2016; Feb 25 [Epub ahead of print]. Philadelphia, PA: Elsevier Saunders; 2013. Glycogen storage disease type II (acid maltase deficiency, or Pompe disease) (OMIM 232300) is caused by a deficiency of α-1,4 glucosidase, an enzyme required for the degradation of lysosomal glycogen … Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, At age 18 years of age, she had marked hypertriglyceridemia (3860 mg/dL) and eruptive,  Excess of acetyl CoA resulting in increased cholesterol levels, produce, Affected individuals may also have diarrhea and deposits of cholesterol in the skin (, High lipid levels can lead to the formation of fatty skin growths called, The management of glycemic control remains a clinical challenge, requiring management of both, Most affected individuals exhibit resolution of hepatomegaly, hypotonia, muscle weakness, risk of, […] be produced by glomerular hyperfiltration, TGF-beta expression which is induced by renin-angiotensin-aldosterone system (RAS) and uric acid, and the increase in both small dense LDL and modified LDL which is characteristic of GSD Iota(a) as well as. In some cases, diet therapy is helpful. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. Glycogen storage disease, Type 1a, is also called GSD1a or Von Gierke disease. Making the diagnosis may be quite difficult, but liver or skeletal muscle symptoms together with hypoglycemia that do not have an identifiable cause should rise suspicion toward GSDs. Welcome! It is passed down from parents to children (inherited). NORD RareLaunch® Workshops Symptoms are diverse, but hepatosplenomegaly, failure to thrive and hypoglycemia are the most common. (HPO) . You may want to review these resources with a medical professional. 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