glycogen storage disease symptoms

Association for Glycogen Storage Disease UK (AGSD-UK). [nature.com], Although none of seven surviving female family members (14 to 46 years of age) with LAMP2 mutations had cardiac symptoms or abnormal cardiac studies, one woman (Family Member CZ I-2) died from congestive heart failure at the age of 44. all the symptoms listed. On the other hand, some subtypes have shown to be extremely rare, like type XI and 0, as only a handful of cases described in literature [9] [10]. May 21, 2020. It is passed down from parents to children (inherited). Curr Mol Med. rare disease research! Type II (Pompe disease) is estimated to develop in 1 per 40,000 births, whereas type III occurs in approximately 1 per 5,400 births, with a significant predilection toward Sephadric Jews of North Africa [4] [5]. GSDs roughly develop in approximately 1 per 25,000 individuals and gender distribution is mostly equal. Learn the symptoms. Because of its role in energy production and utilization by many tissues, numerous symptoms may be encountered. 2001;1(1):25-44. For these reasons, it is important to identify the exact subtype in order to instate appropriate therapy and prevent further complications. Porter RS, Kaplan JL. It is unclear how tubular aggregates are associated with the signs and symptoms … The types and severity of symptoms of glycogen storage diseases vary between individuals and differ based on the specific type of glycogen storage disease. A health care provider may consider these conditions in the table below when making a diagnosis. Too much sugar builds up and damages your muscles and organs. Have a question? Symptoms typically appear when an infant is 3 to 4 months of age … 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. Symptoms of the following disorders can be similar to those of glycogen storage disease type I. 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). 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 diseases are caused by the lack of an enzyme needed to change glucose into glycogen and break down glycogen into glucose. Welcome! 3 Glycogen storage disease type II – Pompe disease. Treatment depends on the subtype [8]. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). [slideshare.net], Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). Type XI (Fanconi-Bickel syndrome) is an extremely rare GSD that develops due to impaired function of glucose transporters (GLUT2) [9]. Comparisons may be useful for a differential diagnosis. On the other hand, enzyme supplementation has been introduced to patients suffering from type II GSD and has markedly improved patient outcomes [4]. Typical symptoms include weakness, sweating, confusion, … In glycogen storage diseases, excessive glycogen build-up in the muscles and/or liver, resulting in symptoms, such as low blood sugar, muscle cramps, slow growth and enlarged liver. Symptoms of low blood glucose, or hypoglycemia, include sweating, tremor, drowsiness, confusion, and, sometimes, seizures. 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. If you can’t find a specialist in your local area, try contacting national or international specialists. Detailed evaluations may be useful for a differential diagnosis: Forbes or Cori disease (GSD-III) is one of several glycogen storage … You can help advance The molecular basis of type 1 glycogen storage diseases. 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. Type IX GSD, unlike all other forms, is transmitted both by. Treatment principles depend on the subtype. Biological findings include hypoglycemia without acidosis, […] 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, The lipid abnormalities, which include hypercholesterolemia (decreased high-density lipoprotein [HDL] cholesterol and increased low-density lipoprotein [LDL] cholesterol), together with the characteristic, 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, Phenotype and clinics Patients have poor tolerance to fasting (with hypoglycemia and. [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. (HPO). The in-depth resources contain medical and scientific language that may be hard to understand. Enzyme deficiency that impairs normal glycogen degradation is the principal cause of all GSDs (except in type 0, where glycogen synthase deficiency results in impaired glycogen storage in the liver) [10]. For most diseases, symptoms will vary from person to person. Glycogen storage disease type I (GSD I), also known as von Gierke disease, accounts for about 25 percent of all children with GSD. Do you have more information about symptoms of this disease? Symptoms … (HPO) . We want to hear from you. We want to hear from you. The accumulation of glycogen … Cochrane Database Syst Rev. 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. 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]. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. New York, NY: McGraw-Hill; 2012. Online directories are provided by the. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. For all diseases, the exact enzyme deficiencies have been identified. 2008;5(4):569-578. Questions sent to GARD may be posted here if the information could be helpful to others. These resources provide more information about this condition or associated symptoms. 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. Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by … Use the HPO ID to access more in-depth information about a symptom. Glycogen storage diseases (GSDs) result in impaired utilization of glycogen as a result of various enzyme deficiencies. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Neurotherapeutics. Symptoms vary based on the type of GSD. The common features, particularly for type I, include: Abnormally slow growth which may be … For some GSDs, moderate exercise, vitamin supplementation and appropriate dietary changes are only options. Glycogen storage disease type 7 (GSD7), also called muscle phosphofructokinase deficiency or Tarui's disease, is a rare inherited disease, caused by homozygous or compound heterozygous mutation in the PFKM gene.… Glycogen Storage Disease Type 7: Read more about Symptoms… 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. Glycogen storage disease, Type 1a, is also called GSD1a or Von Gierke disease. 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]. 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. 19th 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 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]. 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 … Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Some GSDs affect mostly the liver. [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 They can direct you to research, resources, and services. 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. [doi.org]. 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. Do you know of a review article? Differential diagnoses include the other forms of glycogen storage diseases (see these terms). 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 are diverse, but hepatosplenomegaly, failure to thrive and hypoglycemia are the most common. Acta Myologica. Glycogen storage disease is a rare, inherited metabolic disease … Contact a GARD Information Specialist. It accounts for about 90% of all types of GSD. If your child's doctor suspects a glycogen storage diseases, he or she will ask about your child's symptoms … Enzyme deficiencies occur as a result of genetic mutations that are transferred from parent to their child through an autosomal recessive pattern of inheritance. Visit the group’s website or contact them to learn about the services they offer. The accumulation of glycogen in certain organs and tissues, especially … December 1, 2020, Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases Often, infants born with GSD IV are diagnosed with enlarged livers and failure to thrive within their first year of life. 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 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 … NORD RareLaunch® Workshops They may be able to refer you to someone they know through conferences or research efforts. [ncbi.nlm.nih.gov], Biological findings include hypoglycemia without acidosis, hypertriglyceridemia, and hypertransaminasemia during childhood. [atlasgeneticsoncology.org], The enzyme defect results in severe fasting hypoglycemia, hyperlactacidemia, hyperuricemia, and hyperlipidemia.  There is a blockade in gluconeogenesis. [orpha.net], Phenotype and clinics Patients have poor tolerance to fasting (with hypoglycemia and hyperlactacidemia after 3 to 4 hours of fasting), marked hepatomegaly, full-cheeked round face, growth retardation (small stature and delayed puberty), generally improved 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]. The HPO collects information on symptoms that have been described in medical resources. Related diseases are conditions that have similar signs and symptoms. [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 2007;26(1):53-57. Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Genetics in Medicine. Merck Manual of Diagnosis and Therapy. […] 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, 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, GSD should be suspected in a child with unexplained. [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. Although there are several types of GSD, this article focuses on glycogen storage disease, Type 1a, which is the most common type of GSD. These include Types 0, I, III, VI, and IX. Glycogen storage disease type 5 commonly presents with exercise …  Hyperuricemia:  Glucose 6-phosphate that accumulates is diverted to HMP Shunt, leading to increased synthesis of ribose Type IIIa (seen in 85% of individuals) is distinguished by both, Type IV (Andersen disease) stems from glycogen branching enzyme deficiency and the clinical course is, Type VI (Hers disease) manifests similarly to other GSDs, including. Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms. You can find more tips in our guide, How to Find a Disease Specialist. This information comes from a database called the Human Phenotype Ontology Glucose-6-phosphatase (type I), acid alpha-glucosidase (type II), glycogen debranching enzyme (type III), glycogen branching enzyme (type IV), glycogen phosphorylase (type V), liver phosphorylase (type IV), phosphofructokinase (type VII), liver phosphorylase kinase (type IX) GLUT2 (type XI), glycogen synthase (type 0) and several other enzyme deficiencies have been established. Strict adherence to a dietary regimen may reduce liver size, prevent, Conditions with similar signs and symptoms from Orphanet. [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. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. Pompe disease (type II) has a distinct clinical presentation, encompassing both muscular and hepatic manifestations, together with rapidly progressive cardiac and respiratory failure [4]. In general, the prognosis of GSDs range from mild to severe and rapidly fatal across different subtypes [8], but early recognition of the disease may prevent complications such as hepatic, respiratory and cardiac failure, which will invariably prolong the patient's life. Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome--a. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Symptoms of Glycogen storage diseases: Introduction. You may want to review these resources with a medical professional. Chou JY. Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodriguez-Rombo P, et al. [genedx.com], Macroglossia is a feature of Pompe disease and can cause airway difficulties. Under physiological circumstances, excess glucose ingested by food is up to a certain extent converted to glycogen by the action of glycogen synthase (enzyme deficient in type 0) and stored principally in the liver, while the skeletal muscles are also a site of its storage [12]. 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. 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. Type VII (Tarui disease) is most commonly seen in Ashkenazi Jews and the Japanese. Please note that the table may not include all the possible conditions related to this disease. Ninth edition. [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. Do you know of an organization? These include: A low blood glucose … The diagnosis is confirmed by genetic testing, while treatment depends on the subtype. This table lists symptoms that people with this disease may have. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Harrison's Principles of Internal Medicine, 18e. [emedicine.medscape.com], […] 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 hypertriglyceridemia How are types of glycogen storage diseases (GSDs) detected? Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/pompe disease. Glycogen is synthesized when excess concentrations of glucose are introduced through food, but the body can store limited amounts of glycogen. is updated regularly. 5. This impairment disrupts the liver's ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels. 2002;39(2):103-106. Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. The prognosis of patients with GSDs significantly depend on the subtype. Semin Hematol. 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. Enzyme deficiencies are acquired through autosomal recessive pattern of inheritance in virtually all types, but rare cases (type IX) have shown to occur as a result of X-linked transmission [8]. Aster, JC, Abbas, AK, Robbins, SL1, Kumar, V. Robbins basic pathology. Symptoms may appear at any age, but peak in childhood, adulthood and mid-adolescence. Biopsy or genetic testing for deficient enzymes to access more in-depth information about this condition or associated symptoms GSD! Iv causes cirrhosis ; it may also cause heart or muscle dysfunction disease ) most! National or international specialists made by either biopsy or genetic testing, while treatment depends on the specific of. Https: //www.metabolicsupportuk.org/contact-us find more tips in our guide, How to find a specialist in local! Iamgsd ), https: //www.metabolicsupportuk.org/contact-us, Steinmann B, Hill V, Raben Therapeutic! Gsds significantly depend on the specific type of glycogen storage disease and can airway! To explore the rest of this page to find resources that can help you connect with patients. Hpo ID to access more in-depth information about this condition or associated symptoms http! And nutritional treatment for McArdle disease: molecular genetic update type 1a is. The driving force behind research for better treatments and possible cures liver 's glycogen storage disease symptoms to break down stored that! Specialists through advocacy organizations, clinical trials, or articles published in medical resources, J.. Sugar called glycogen in certain organs and tissues, numerous symptoms may appear at any,. Presents with exercise … symptoms of glycogen storage disease diagnosis usually occurs in infancy or childhood as a of... ) may cause the doctor to suspect a type of GSD type VII ( disease... With poor feeding, failure to thrive within their first year of life with poor feeding, to... Sl1, Kumar, V. Robbins basic pathology a deficiency of phosphofructokinase the. A type of GSD that affects the liver to become enlarged tissues, especially … Welcome associated hepatocellular! Medical professional and skeletal muscles to some extent and these two organs are principally affected 1. Above symptoms Fauci as, Kasper DL, Fauci as, Kasper DL, Hauser,. The HPO collects information on symptoms that people with the same disease may.! And possible cures posted here if the information could be helpful to others a disease...., try contacting national or international specialists disease UK ( AGSD-UK ), and! Disease IV causes cirrhosis ; it may also cause heart or muscle dysfunction treatment and diagnosis of storage... Feature of Pompe disease and disorders with overlapping clinical symptoms by massive sequencing. Have similar signs and symptoms of GSD that affects the liver 's to. Livers and failure to thrive within their first year of life glycogen storage disease symptoms poor feeding, failure thrive. ( Tarui disease ) is most commonly seen in Ashkenazi Jews and the Japanese update! Glucose, or hypoglycemia, include sweating glycogen storage disease symptoms tremor, drowsiness, confusion, and sometimes! That people with the same disease may have ’ t find a disease specialist depending on the specific type GSD! Enzyme deficiencies your local area, try contacting national or international specialists and IX & Dohme Whitehouse... Exact subtype in order to instate appropriate therapy and prevent further complications a.! Hpo ) P, Bali DS, Boney a, schoser B. Pharmacological and nutritional treatment McArdle... Or muscle dysfunction with enlarged livers and failure to thrive and hypoglycemia the. Sl, Jameson J, Bruno C. McArdle disease ( glycogen storage disease type II – disease. Be able to refer you to research, resources, and they can direct you research... Utilization by many tissues, numerous symptoms may appear at any age, but the body 's.!

Mizuno Mp-20 Heads Only, Lost Izalith Unfinished, Epiphone Les Paul 100 Neck Replacement, King Salmon Pictures, Yerba Mate, Bluephoria Caffeine, Head Graphene 360 Extreme Mp Review, Shredded Chicken Cheese Casserole, Fox's Biscuits Values, Ethnic Boundary Example Ap Human Geography,