2012:115-140. 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 Glycogen Storage Diseases and Related Disorders. We hypothesize that an early switch to high fat diet can reverse—or at least decrease—the cardiac glycogen storage. Valladares AI, Kemlage LC, Weinstein DA. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. It is also known as PHKB-related phosphorylase kinase deficiency. Affected individuals may develop progressive muscle weakness, muscle degeneration (atrophy), muscle cramps, abnormal muscle pain (myalgia) that occurs following exercise (exercise-induced muscle pain), abnormal muscle stiffness following exercise and rust colored urine due to excretion of myoglobin, a muscle protein (myoglobinuria). MD: The Johns Hopkins University; Entry No:306000; Last Update: 05/27/2015. An abnormality in any of these subunits results in phosphorylase kinase deficiency, although the specific symptoms may vary. Most individuals attain a normal adult height.. Moreover, results showed decreased CK concentrations in 89% of GSDIII patients in accordance with literature 9 , 11 , 13 and improved subjective strength in most of the patients. McKusick VA., ed. 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. When the body needs extra fuel, it breaks down the glycogen stored in t… Some individuals will only require cornstarch supplementation before bedtime. Glycogen Storage Disease Type IXb This subtype of the disorder is characterized by phosphorylase kinase deficiency of the liver and the muscle. NORD is a registered 501(c)(3) charity organization. A … Cornstarch should not be mixed in drinks that contain high amounts of ascorbic or citric. Comparisons may be useful for a differential diagnosis. 1 For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia. Types of Glycogen Storage Disease. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population. A mutation in one of these genes results in a deficiency of functional levels of the associated protein product. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/ Accessed January 23, 2017. for Glycogen Storage Disease Type I Glycogen Storage Disease Type I (GSDI) is a genetic metabolic disorder of the liver. Amato AA. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. However, liver problems have only been successfully treated by a transplant. This form is rare and is inherited in an X-linked manner. 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. 2013;109:179-182. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672367/, Johnson AO, Goldstein JL, Bali D. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. A lack of glycogen breakdown interferes with the normal function of the affected tissue. 2007;92:88-99. http://www.ncbi.nlm.nih.gov/pubmed/17689125. Some individuals may be unable to tolerate oral therapy with PolycoseÂ® or fruit juice and may require glucose to be delivered through an IV line. 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. Glycogen storage disease type IX is caused by mutations in the PHKA1, the PHKA2, the PHKB, or the PHKG2 gene. 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. Am J Med Genet. They reported on a young girl with phosphorylase kinase deficiency of the liver that was consistent with autosomal recessive inheritance. If hypoglycemia or ketosis develops, affected individuals can be treated with PolycoseÂ® (glucose polymer powder) or fruit juice. Saudubray JM, van den Berghe G, Walker JH, editors. Prognosis is considered generally good for the X-linked and certain autosomal forms of the disease. This form of the disorder is inherited in an autosomal recessive manner. 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. What is the effect of glycogen storage in healthy people? Some individuals may need to have a bedtime snack or cornstarch to prevent nighttime development of hypoglycemia. Symptoms of hypoglycemia include shakiness, irritability, unexplained fatigue, headache, pale skin, and rapid heartbeat. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. Mol Genet Metab. The bodys cells need a steady supply of fuel in order to function the right way. A doctor examining the first morning urine of someone with GSD 0 may see some signs (increased glucose and ketones in urine) that might make the diagnosis of diabetes as the first thing mentioned to a family. Later on, similar individuals were described in the medical literature whose cases were more consistent with X-linked inheritance. This enzyme is necessary to break down (metabolize) a type of complex sugar known as glycogen. J Pathol. It is passed down from parents to children (inherited). However, at this time, more severe presentations such as liver fibrosis and cirrhosis are being reported, even in the X-linked form. 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. In: Nutrition in Pediatrics 4, Duggan C, Watkins JB, Walker WA, editors.BC Decker, Inc., Hamilton, Ontario. The risk of these complications appears to be greater in GSD-IXc than in other forms of the disorder. Although GSD-IXa has, historically, been considered a benign (mild) disorder, this notion is being currently dispelled with reports of patients with severe symptoms. Carrier females usually do not display symptoms of the disorder but may have symptoms if the X chromosome with the altered gene is the one that is active in a larger proportion of cells. However it has come to light that this is primarily caused by a mutation in the PRKAG2 gene. INTERNET Goldstein J, Austin S, Kishnani P, et al. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. This form of the disorder is inherited in an autosomal recessive manner. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25% (1 in 4). Glycogen Storage Disease Type IXa GSD-IXa is the most common subtype of GSD IX, and is caused by the deficiency of phosphorylase kinase in the liver. However, the X-linked form is now classified as a subtype of GSD-IX since the disorder involves the same enzyme complex as the autosomal recessive forms. 1999 Nov. 189(3):416-24. . 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. In: Inborn Metabolic Diseases: Diagnosis and Treatment, 5th ed. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 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. X-linked recessive genetic disorders are conditions caused by an altered gene on the X chromosome. Genes are packaged in the chromosomes received from the father and the mother. a. Prolonged fasting should be avoided. Symptoms of the following disorders can be similar to those of glycogen storage disease type IX. 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. Such disorders include carnitine palmitoyltransferase II deficiency, very long chain Acyl CoA dehydrogenase (VCLAD) deficiency, and phosphoglycerate kinase deficiency. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Glycogen Storage Disease Type IV is caused by a branching enzyme deficiency that causes an inability to metabolize glucose properly, resulting in an accumulation of an abnormal form of glycogen in the muscles and liver. McKusick VA., ed. Phosphorylase Kinase Deficiency, PHK, constitutes the largest subgroup (1:100,000 births) of liver glycogenosis. Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes. GSD-IXd is extremely rare and its prevalence is unknown. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.). s~. 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. Mol Genet Metab. MD: The Johns Hopkins University; Entry No:261750; Last Update: 05/27/2015.. Routine checks of metabolism are needed to ensure blood sugar (glucose) and ketones are managed. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. J Pediatr Gastroenterol Nutr. The underlying cause is different for each glycogen storage disease. In general, affected individuals cannot exercise at normally accepted levels (exercise intolerance). Glycogen storage and weight loss . Foods Recommended: “The majority of medical centers recommend the use of uncooked cornstarch, mixed in water, soy formula or soy milk (sucrose, fructose and lactose free). Mutations in only one gene have been found in individuals with the muscle form. Follow-up of liver involvement may be done by checking liver enzyme levels such as aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase and gamma glutaryl transferase (GGT) and abdominal ultrasound/MRI every 6-12 months or as clinically relevant. 1999 Sep 17. GSD IIIb, … Understanding of this disease continues to evolve as more cases come to light. Sample Menu. Because individuals with GSD-IX cannot properly break down glycogen, excess amounts accumulate in the liver, muscles, or both. 2014;173:647-653. http://www.ncbi.nlm.nih.gov/pubmed/24326380, Bali DS, Goldstein JL, Fredrickson K, et al. Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. TEXTBOOKS Laforet P, Weinstein DA, Smit PA. Baltimore. The liver form of GSD-IX is inherited in either an X-linked or autosomal recessive manner and can be caused by a mutation in one of three different genes. Springer-Verlag, Berlin, Germany. With age, most adult patients with GSDIa develop hepatocellular adenomas (HCA), which can progress to hepatocellular carcinomas (HCC). J Am Diet Assoc. They include: Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases; Type II (Pompe's disease, acid maltase deficiency) http://www.ncbi.nlm.nih.gov/pubmed/20532819, Beauchamp NJ, Dalton A, Ramaswami U, et al. 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. It is not a true GSD. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. 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. Genetic diseases are determined by the combination of genes for a particular trait. The body uses as much glucose as it needs to function and stores the rest to use later. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and … Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. Frequent, small meals that can be supplemented with uncooked cornstarch are recommended to avoid hypoglycemia. Individuals with symptoms of muscle PhK activity can have elevated creatine kinase level in blood but the presentation is similar to many other muscle disorders, and measurement of phosphorylase kinase activity in a muscle sample is needed to further investigate the diagnosis. However, these findings are nonspecific and more specialized enzyme and genetic tests are needed to diagnose GSD-IX. Investigators have determined that glycogen storage disease type GSD-IXa is caused by mutations in the PHKA2 gene, which is located on the short arm (p) of the X chromosome (Xp22.13). Each of the genes associated with GSD-IX contain instructions for creating (encoding) one of these subunits. Phosphorylase kinase deficiency is a type of glycogen storage disorder with two main subtypes, namely the liver and muscle subtypes. 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. Available at: http://www.orpha.net/ Accessed January 23, 2017. Speaking of Keto and Atkins, Glycogen is the secret quarterback in the low-carb diet game. The liver will not be larger than normal. Online Mendelian Inheritance in Man (OMIM). Hug, et al. GSD-IX is caused by deficiency of the enzyme phosphorylase kinase. Evaluation of family members at risk may be done by carrier testing. Neurology. Glycogen is a stored form of sugar in the body. Bake meats breaded do not fry. 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. The treatment of GSD-IX is directed toward the specific symptoms that are apparent in each individual. 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. Nutrition therapy for hepatic glycogen storage diseases. If the muscles are affected, physical therapy may be recommended. Glycogen storage disease type Ia (GSDIa) is a rare genetic disease associated with glycogen accumulation in hepatocytes and steatosis. Mol Genet Metab. Molecular genetic testing can confirm a diagnosis of GSD-IX. Some GSD types cannot be treated; others are fairly easy to control by treating the symptoms. Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. This process, called âX-inactivationâ, is random. Males with X-linked disorders pass the disease gene to all of their daughters. The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The risk to have a child who is a carrier like the parents is 50% (1 in 2) with each pregnancy. J Inherit Metab Dis. In addition, certain mitochondrial myopathies and other metabolic diseases may have symptoms that are similar to the muscle form of GSD-IX. 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. Some children have delays in motor development. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Mol Genet Metab. The deficiency of phosphorylase kinase in this disorder seems to be a secondary effect Affected individuals develop disease or weakening of the heart muscle (cardiomyopathy) very early in life. 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. Glycogen storage disease III is caused by … Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. MD: The Johns Hopkins University; Entry No:613027; Last Update:08/17/2016. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Isolated cases of cardiac phosphorylase kinase deficiency, which present as heart failure in infancy, have been reported. 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. McKusick VA., ed. 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