Diminished muscle tone (hypotonia) and muscle weakness may also be seen during early childhood. It is also known as PHKB-related phosphorylase kinase deficiency. NORD is a registered 501(c)(3) charity organization. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Manifestations range from hepatomegaly and growth restriction to muscle hypotonia, pain, and weakness.… Glycogen Storage Disease Type 9 (Glycogen Storage Disease Type IX): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. Online Mendelian Inheritance in Man (OMIM). GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. 1999 Sep 17. Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms. Males with X-linked disorders pass the disease gene to all of their daughters. Glycogen storage disease type IX: high variability in clinical phenotype. Prolonged fasting should be avoided. For Glycogen Storage Disease Type lX Glycogen Storage Disease Type IX (GSD IX) is a genetic metabolic disorder which causes the inability to break down glycogen to glucose. Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. 2014;111:309-313. http://www.ncbi.nlm.nih.gov/pubmed/24389071, Roscher A, Patel J, Hewson S, et al.The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. If the muscles are affected, physical therapy may be recommended. When phosphorylase kinase is low or deficient, glycogen cannot be broken down completely. Glycogen storage diseases (GSDs) are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. The specific symptoms present, severity and prognosis can vary depending upon the subtype and the areas of the body affected. Glucose (sugar) is the main source of fuel for the body and brain. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. GSD IIIb, … For most GSDs, each parent must pass on one abnormal copy of the same gene. Some children have delays in motor development. Hypoglycemia can also be very severe and may recur. Genetic counseling may be of benefit for affected individuals and their families. Investigators have determined that glycogen storage disease type IXb is caused by mutations in the PHKB gene, which is located on the long arm (q) of chromosome 16 (16q12.1). Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. In other words, if a female carrier is pregnant with a male child, there is a 50% (1 in 2) chance that the baby will have inherited the altered gene and will have GSD IX, and if the baby is female, there is a 50% (1 in 2) chance that she will be a carrier. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population. s~. In addition, certain mitochondrial myopathies and other metabolic diseases may have symptoms that are similar to the muscle form of GSD-IX. Understanding of this disease continues to evolve as more cases come to light. In general, affected individuals cannot exercise at normally accepted levels (exercise intolerance). When there is excess glycogen, it is stored in the body, primarily in the liver and muscles and, when the body needs more energy, is eventually converted into glucose. They reported on a young girl with phosphorylase kinase deficiency of the liver that was consistent with autosomal recessive inheritance. A mutation in one of these genes results in a deficiency of functional levels of the associated protein product. Glycogen storage and weight loss have a strange love story. In: Inborn Metabolic Diseases: Diagnosis and Treatment, 5th ed. This form of the disorder is inherited in an autosomal recessive manner. The liver GSD subtypes cause fasting intolerance (types 0, Ia, Ib, III, VI, IX and XI) or liver failure (type IV), with or without muscle symptoms. It accounts for approximately 75% of affected individuals and is also known as X-linked liver glycogenesis … JIMD Rep. 2016;28:41-47. https://www.ncbi.nlm.nih.gov/pubmed/26526422, Brown, L.M., Corrado, M.M., van der Ende, R.M. These disorders cannot be distinguished from associated symptoms, which are extremely similar. Glycogen Storage Disease Type IXc This subtype of GSD-IX is characterized by phosphorylase kinase deficiency of the liver. INTERNET Goldstein J, Austin S, Kishnani P, et al. 86(3):253-7. . These tests include an enzyme assay that measures the activity of phosphorylase kinase in red blood cells (erythrocytes) or in liver tissue. Glycogen is a stored form of sugar in the body. Glycogen Storage Disease Type IXd This extremely rare form of the disorder is characterized by phosphorylase kinase deficiency of the muscle. Limited cold cuts and hotdogs (beware of fillers). Saudubray JM, van den Berghe G, Walker JH, editors. Most individuals attain a normal adult height.. Hou DC, Kure S, Suzuki Y. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Online Mendelian Inheritance in Man (OMIM). Treatment of Glycogen Storage Disease (GSD) Treatment depends on the type of GSD. Baltimore. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. McKusick VA., ed. GSD-IX is sometimes categorized into a liver form (caused by phosphorylase kinase deficiency in the liver, or liver and muscle) and muscle form, which is rare and is caused by phosphorylase kinase deficiency in the muscle only. Treatment may require the coordinated efforts of a team of specialists. There are at least 13 glycogen storage disease (GSD) subtypes, in which the energy stored as glycogen cannot be adequately produced or broken down. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Recent guidelines on diagnosis and management recommend frequent feedings with high complex carbohydrates or cornstarch avoiding fasting in children, while in adults a low-carb-high-protein-diet is recommended. 2014 Nov;113(3):171-6. https://www.ncbi.nlm.nih.gov/pubmed/25266922, Tsilianidis LA, Fiske LM, Siegel S, et al. The glycogen is then stored in the liver and muscles. Affected individuals may present with a wide range of disease symptoms. Liver function is regularly monitored and problems managed as they arise. a. Frequent high carbohydrate meals during the day. Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. Hypoglycemia can develop after fasting overnight, after shorter periods of fasting, or if food intake is reduced during illness. Baltimore. Although GSD-IXa has, historically, been considered a benign (mild) disorder, this notion is being currently dispelled with reports of patients with severe symptoms. Growth delays can be pronounced during childhood, but most children show catch-up growth and ultimately reach a normal adult height. Later on, similar individuals were described in the medical literature whose cases were more consistent with X-linked inheritance. (For more information on this disorder, choose âHersâ as your search term in the Rare Disease Database. These disorders account for approximately 25% of all glycogen storage disorders making GSD-IX one of the most common forms of these disorders. 1993 Dec. 93(12):1423-30. . Genes are packaged in the chromosomes received from the father and the mother. Each of the genes associated with GSD-IX contain instructions for creating (encoding) one of these subunits. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. The X-linked forms primarily affect males, although females can have symptoms, such as enlargement of the liver and, more rarely, females can have symptoms similar to those seen in males. 2012;55:90-92. http://www.ncbi.nlm.nih.gov/pubmed/21857251, Preisler N, Orngreen MC, Echaniz-Laguna A, et al. Symptoms of hypoglycemia include shakiness, irritability, unexplained fatigue, headache, pale skin, and rapid heartbeat. Here are some examples: A high-fat diet lessened myopathy (muscle weakness) in two boys with Cori disease (type III GSD) over the course of about 2.5 years. Female carriers of an X-linked disorder have a 25% (1 in 4) chance with each pregnancy to have a carrier daughter like themselves, a 25% (1 in 4) chance to have a non-carrier daughter, a 25% (1 in 4) chance to have a son affected with the disease, and a 25% (1 in 4) chance to have an unaffected son. Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes. Glycogen storage disease type Ia (GSDIa) is a rare genetic disease associated with glycogen accumulation in hepatocytes and steatosis. The symptoms are similar to those in people with GSD-IXa. Cornstarch should not be mixed in drinks that contain high amounts of ascorbic or citric. Baltimore. In addition, some subtypes have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. The specific symptoms that develop and the overall severity of GSD-IX can vary greatly from one individual to another, even among individuals with the same subtype. Further research is needed to completely understand long-term complications of the disease progression into adulthood. McKusick VA., ed. NORD strives to open new assistance programs as funding allows. Increased levels of different lipids such as cholesterol (hypercholesterolemia) and triglycerides (hypertriglyceridemia) may be seen in blood of some affected individuals. Symptoms of the following disorders can be similar to those of glycogen storage disease type IX. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Glycogen storage disease type III (GSD III) is an inherited metabolic disease caused by deficiency of the glycogen debranching enzyme amylo-1,6-glucosidase and results in the accumulation of abnormal glycogen (‘limit dextrin’). Please note that NORD provides this information for the benefit of the rare disease community. We hypothesize that an early switch to high fat diet can reverse—or at least decrease—the cardiac glycogen storage. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. J Inherit Metab Dis. Seattle (WA): University of Washington, Seattle; 1993-2017. Hug, et al. Benign tumors of the liver, also known as hepatic adenomas may be seen in some individuals. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook. The bodys cells need a steady supply of fuel in order to function the right way. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. J Biol Chem. GSD-IX is part of a larger group of disorders in which the body cannot metabolize glycogen into glucose (glycogen storage diseases). Some children may present with seizures caused by low glucose levels. (For more information on this disorder, choose âmalignant hyperthermiaâ as your search term in the Rare Disease Database.). In: Nutrition in Pediatrics 4, Duggan C, Watkins JB, Walker WA, editors.BC Decker, Inc., Hamilton, Ontario. Molecular genetic testing can detect mutations in specific genes known to cause GSD-IX but, like the enzyme test, is available only as a diagnostic service at specialized laboratories. An abnormality in any of these subunits results in phosphorylase kinase deficiency, although the specific symptoms may vary. Glycogen storage disease III is caused by … Available at: http://www.omim.org/entry/306000 Accessed January 23, 2017. Nutrition therapy for hepatic glycogen storage diseases. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. 2011 May 31. 2015;38: 489. https://www.ncbi.nlm.nih.gov/pubmed/25070466, Albash B, Imtiaz F, Al-Zaidan H, et al. A diagnosis of glycogen storage disease type IX is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/ Accessed January 23, 2017. Malignant hyperthermia is a disorder characterized by an abnormal and potentially life-threatening response to muscle relaxants and general anesthesia drugs. Kishnani PS, Boney A, Chen YT. Available at: http://www.omim.org/entry/300559 Accessed January 23, 2017. The underlying cause is different for each glycogen storage disease. Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.Researchers have described two types of glycogen storage disease type 1, which differ in … 1 For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia. Phosphorylase Kinase Deficiency. Prognosis is considered generally good for the X-linked and certain autosomal forms of the disease. It is a rare autosomal recessive disorder caused by mutations in the PFKM gene and characterized by exercise intolerance, muscle cramping, and myoglobinuria associated with compensated hemolysis and later nascent muscle weakness and mild … Neurology. GLYCOGEN STORAGE DISEASE TYPE I Sucrose, Fructose, Galactose Free Diet Food Group Foods Permitted Foods Need to be Omitted Meat and Fowl Plain beef, pork, chicken, turkey, lamb and veal. The risk to have a child who is a carrier like the parents is 50% (1 in 2) with each pregnancy. et al. Normally, glycogen is metabolized into a simple sugar known as glucose. A … GSD-IX types A, B and C are estimated to affect 1 in 100,000 individuals in the general population. Hypoglycemia can result in the body burning fat for energy in which causes high levels of ketones in the body (hyperketosis). This form of the disorder is inherited in an X-linked manner. It is being increasingly recognized that there is a broad range in the severity of symptoms. For GSD-IX, these mutations can be inherited in either an autosomal recessive or X-linked manner. The liver will not be larger than normal. Liver transplantation may be needed for survival in some patients who have severe liver damage. Monitoring of blood glucose and ketone levels periodically as well as during periods of stress is necessary. GSD-IXd is extremely rare and its prevalence is unknown. This form is also known as PHKA1-related phosphorylase kinase deficiency. Individuals with the liver form of GSD-IX have a wide range of clinical symptoms ranging from less severe to more severe hepatic manifestations of the disease. Glycogen Storage Disease. The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. Mol Genet Metab. Glycogen storage disease type IV, also known as Glycogen branching enzyme deficiency, Andersen's disease or amylopectinosis is a rare inherited metabolic disorder.… Glycogen Storage Disease Type 4 (Andersen Disease): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and … It is also known as PHKG2-related phosphorylase kinase deficiency. Springer-Verlag, Berlin, Germany. Information on Clinical Trials and Research Studies, COVID-19 Rapid Response Leadership Series, 5 Myths About Orphan Drugs and the Orphan Drug Act, Association for Glycogen Storage Disease (UK) Ltd. Children’s Fund for Glycogen Storage Disease Research, Inc. Genetic and Rare Diseases (GARD) Information Center, NIH/National Institute of Diabetes, Digestive & Kidney Diseases, https://www.ncbi.nlm.nih.gov/pubmed/26526422, https://www.ncbi.nlm.nih.gov/pubmed/25070466, http://www.ncbi.nlm.nih.gov/pubmed/24326380, http://www.ncbi.nlm.nih.gov/pubmed/24389071, https://www.ncbi.nlm.nih.gov/pubmed/25266922, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672367/, http://www.ncbi.nlm.nih.gov/pubmed/21857251, http://www.ncbi.nlm.nih.gov/pubmed/22238410, http://www.ncbi.nlm.nih.gov/pubmed/20532819, http://www.ncbi.nlm.nih.gov/pubmed/17689125, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Office of Communications & Public Liaison.