This form is rare and is inherited in an X-linked manner. Prolonged fasting should be avoided. The main types of glycogen storage diseases in children are categorized by number and name. Routine checks of metabolism are needed to ensure blood sugar (glucose) and ketones are managed. GSD-IX is caused by deficiency of the enzyme phosphorylase kinase. 1999 Nov. 189(3):416-24. . Glycogen Storage Disease Type IXc This subtype of GSD-IX is characterized by phosphorylase kinase deficiency of the liver. Hers disease, also known as glycogen storage disease type VI (GSD-VI), is a rare genetic disorder characterized by deficiency of the liver glycogen phosphorylase enzyme. MD: The Johns Hopkins University; Entry No:300559; Last Update: 09/23/2016. It accounts for approximately 75% of affected individuals and is also known as X-linked liver glycogenesis or PHKA2-related phosphorylase kinase deficiency. However it has come to light that this is primarily caused by a mutation in the PRKAG2 gene. This causes a deficiency of the enzyme in muscle, but not the liver. Phosphorylase Kinase Deficiency. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Increased levels of different lipids such as cholesterol (hypercholesterolemia) and triglycerides (hypertriglyceridemia) may be seen in blood of some affected individuals. TEXTBOOKS Laforet P, Weinstein DA, Smit PA. Children with GSD-IXb can develop an enlarged liver (hepatomegaly), hypoglycemia, diminished muscle tone (hypotonia), muscle weakness, and growth delays that can result in childhood short stature. Saudubray JM, van den Berghe G, Walker JH, editors. Isolated cases of cardiac phosphorylase kinase deficiency, which present as heart failure in infancy, have been reported. Some children may present with seizures caused by low glucose levels. 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. NORD strives to open new assistance programs as funding allows. Monitoring of blood glucose and ketone levels periodically as well as during periods of stress is necessary. It is passed down from parents to children (inherited). In: Nutrition in Pediatrics 4, Duggan C, Watkins JB, Walker WA, editors.BC Decker, Inc., Hamilton, Ontario. Affected individuals may present with a wide range of disease symptoms. Glucose (sugar) is the main source of fuel for the body and brain. These disorders account for approximately 25% of all glycogen storage disorders making GSD-IX one of the most common forms of these disorders. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. NORD gratefully acknowledges Priya S. Kishnani, MD, and Mrudu Herbert, MD, Division of Medical Genetics, Department of Pediatrics, Duke University Health System, for assistance in the preparation of this report. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Males with X-linked disorders pass the disease gene to all of their daughters. Genes are packaged in the chromosomes received from the father and the mother. 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. However, at this time, more severe presentations such as liver fibrosis and cirrhosis are being reported, even in the X-linked form. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. It is being increasingly recognized that there is a broad range in the severity of symptoms. A lack of glycogen breakdown interferes with the normal function of the affected tissue. Natural history studies are necessary to understand completely the long-term course and prognosis of GSD IX. If hypoglycemia or ketosis develops, affected individuals can be treated with Polycose® (glucose polymer powder) or fruit juice. Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. 2012:115-140. For the types of GSD that can be treated, patients must carefully follow a special diet. 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’). Eur J Pediatr. These tests include an enzyme assay that measures the activity of phosphorylase kinase in red blood cells (erythrocytes) or in liver tissue. Only permitted foods may be added when seasoning cooking. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. INTERNET Goldstein J, Austin S, Kishnani P, et al. Baltimore. Enzymatic assay or molecular genetic testing can distinguish GSD-VI from GSD-IX. Investigators have determined that glycogen storage disease type IXc is caused by mutations in the PHKG2 gene, which is located on the short arm (p) of chromosome 16 (16p11.2). Each of the genes associated with GSD-IX contain instructions for creating (encoding) one of these subunits. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Because of this, the ketogenic diet — a high-fat, low-carb nutritional plan that gets you burning fat over sugar — has shown promise for treating glycogen storage disease. 2014 Nov;113(3):171-6. https://www.ncbi.nlm.nih.gov/pubmed/25266922, Tsilianidis LA, Fiske LM, Siegel S, et al. J Biol Chem. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. With age, most adult patients with GSDIa develop hepatocellular adenomas (HCA), which can progress to hepatocellular carcinomas (HCC). Some people have few or no problems with hypoglycemia while others have severe and recurrent hypoglycemia. Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes. A 10-month-old boy presented with asymptomatic hepatomegaly. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Frequent, small meals that can be supplemented with uncooked cornstarch are recommended to avoid hypoglycemia. Mol Genet Metab. Kishnani PS, Boney A, Chen YT. The risk to have a child who is a carrier like the parents is 50% (1 in 2) with each pregnancy. The pathology results from an inability to break down glycogen to maintain plasma glucose concentration (e.g., hepatic forms such as hepatic phosphorylase deficiency or glucose-6-phosphatase deficiency), abnormal tissue storage and cirrhosis (e.g., branching enzyme deficiency), or the myopathic forms that inhibit muscle glycogenolysis or glycolysis (e.g., McArdle's disease, Tarui's disease, etc. The risk of these complications appears to be greater in GSD-IXc than in other forms of the disorder. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/ Accessed January 23, 2017. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Hug, et al. The specific symptoms present, severity and prognosis can vary depending upon the subtype and the areas of the body affected. The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.). Hypoglycemia can also be very severe and may recur. These disorders cannot be distinguished from associated symptoms, which are extremely similar. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. In some cases of GSD-IXc, more serious complications can occur such as the development scar tissue (fibrosis) within the liver as well as degeneration, inflammation and scarring of the liver (cirrhosis). Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. 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. The glycogen is then stored in the liver and muscles. 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. When the body needs extra fuel, it breaks down the glycogen stored in t… Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Tarui disease or muscle phosphofructokinase (PFKM) deficiency belongs to the glycogen storage diseases (GSD VII, OMIM#232800). Common symptoms of the liver form include abnormal enlargement of the liver (hepatomegaly), unusually low levels of blood glucose (hypoglycemia), increase in blood ketones, which are byproducts generated when the body burns fats for energy (hyperketosis) during fasting, and growth delays. It is not a true GSD. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Mol Genet Metab. 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. Online Mendelian Inheritance in Man (OMIM). Hypoglycemia can result in the body burning fat for energy in which causes high levels of ketones in the body (hyperketosis). 2010;33:S289-294. 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