Glycogen storage disease
Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009 "Glycogen Storage Disease Type I". Association for ... GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man "Definition: glycogen storage disease type ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan storage ...
Glycogen storage disease type I
GeneReview/NIH/UW entry on Glycogen Storage Disease Type I Media related to Glycogen storage disease type I at Wikimedia ... Glycogen-Storage Disease Type I at eMedicine https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/ Nation ... Glycogen Storage Disease Ic - 232240 PARKER, PAUL (1981). "Regression of hepatic adenomas in type Ia glycogen storage disease ... "Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage ...
Glycogen storage disease type III
"glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07. "Glycogen storage disease type 3 , Genetic ... Scholia has a topic profile for Glycogen storage disease type III. Media related to Glycogen storage disease type III at ... "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi: ... which in turn helps in glycogen decomposition. In terms of the diagnosis for glycogen storage disease type III, the following ...
Glycogen storage disease type VI
... (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen ... "Glycogen storage disease type VI". GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI Media related to Glycogen ... Glycogen storage disease due to liver glycogen phosphorylase deficiency". www.orpha.net. Retrieved 11 April 2019. Glycogen- ... The scope of GSD VI now also includes glycogen storage disease type VIII, IX (caused by phosphorylase b kinase deficiency) and ...
Glycogen storage disease type V
Another glycogen storage disease that affects muscle (muscle GSD); Metabolic myopathy other than glycogen storage disease; ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder, one of the metabolic ... Glycogen storage disease Hitting the wall (muscle fatigue due to glycogen depletion) Inborn errors of carbohydrate metabolism ...
Glycogen storage disease type 0
Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen ... "Glycogen-Storage Disease Type 0" "Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency". www.orpha. ... The overall frequency of glycogen-storage disease is approximately 1 case per 20,000-25,000 people. Glycogen-storage disease ... Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although ...
Glycogen storage disease type IV
... (GSD IV), or Andersen's Disease, is a form of glycogen storage disease, which is caused by an ... "Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive ... "Andersen Disease (GSD IV)". National Organization for Rare Disorders. Retrieved 5 February 2023. "Glycogen Storage Disease Type ... Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. Andersen's disease affects 1 in 800,000 ...
Glycogen storage disease type II
"Type II Glycogen Storage Disease". The Association for Glycogen Storage Disease. Archived from the original on June 23, 2012. ... Association of Glycogen Storage Disease in the United States AGSD-UK - Association of Glycogen Storage Disease in the UK AMDA ... GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Understanding Pompe Disease - US National Institute ...
Glycogen storage disease type IX
... glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual. Mutations in PHKA2 have ... Scholia has a topic profile for Glycogen storage disease type IX. Media related to Glycogen storage disease type IX at ... Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and ... been seen in individuals with glycogen storage disease IXa2.[medical citation needed] The management of Glycogen storage ...
Glycogen
Wikimedia Commons has media related to Glycogen. "Glycogen storage disease". McArdle's Diseases. Glycogen at the U.S. National ... These are collectively referred to as glycogen storage diseases. Long-distance athletes, such as marathon runners, cross- ... It is the main storage form of glucose in the human body. Glycogen functions as one of two forms of energy reserves, glycogen ... Glycogen is an analogue of starch, a glucose polymer that functions as energy storage in plants. It has a structure similar to ...
Glycogen debranching enzyme
GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III OMIM entries on Glycogen Storage Disease Type III Glycogen+ ... Mapping the disease-causing mutations onto the GDE structure provided insights into glycogen storage disease type III. The ... When GDE activity is compromised, the body cannot effectively release stored glycogen, type III Glycogen Storage Disease ( ... When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen ...
Glycogen branching enzyme
Mingyi, Chen (2011). Glycogen Storages Diseases chapter of Molecular Pathology of Liver Diseases. Springer. pp. 677-682. ISBN ... Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease) in newborns and ... Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease). This enzyme ... Since glycogen is a readily mobilized storage form of glucose, the extended glycogen polymer is branched by glycogen branching ...
Robert Frederick Mahler
Glycogen synthase
"Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". The ... The control of glycogen synthase is a key step in regulating glycogen metabolism and glucose storage. Glycogen synthase is ... Mutations in the GYS1 gene are associated with glycogen storage disease type 0. In humans, defects in the tight control of ... Liver glycogen serves as a storage pool to maintain the blood glucose level during fasting, whereas muscle glycogen synthesis ...
Phosphofructokinase deficiency
"Tarui disease". The Swedish Information Center for Rare Diseases. University of Gothenburg. "Glycogen Storage Disease Type VII ... "Glycogen Storage Disease Type VII". Genetics Home Reference. US National Library of Medicine. Toscano A, Musumeci O (October ... Unlike most other glycogen storage diseases, it directly affects glycolysis. The mutation impairs the ability of ... "Glycogen Storage Diseases (Glycogenoses; GSD)". Mount Sinai Hospital. "Phosphofructokinase Deficiency (PFK)". PennGen ...
Kinase
Tarui's disease, a glycogen storage disease that leads to exercise intolerance, is due to a mutation in the PFK gene that ... "Phosphofructokinase Deficiency Glycogen Storage Disease". Bauer S, Kemter K, Bacher A, Huber R, Fischer M, Steinbacher S (March ... Castleman's disease)". Clinical Infectious Diseases. 22 (6): 1120-1121. doi:10.1093/clinids/22.6.1120. PMID 8783733. Scheeff ED ... Mutations in kinases that lead to a loss-of-function or gain-of-function can cause cancer and disease in humans, including ...
Glycogen-branching enzyme deficiency
The human form of the disease is known as glycogen storage disease type IV. Glycogen is a molecular polymer of glucose used to ... Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and ... This causes low levels of muscle glycogen that is very resistant to amylase. Lacking proper glycogen storage, the horse's brain ... This genetic disease has been linked to the foundation Quarter Horse sire King P-234. "Testing for Genetic Diseases" Equus 353 ...
Lactate dehydrogenase
"Glycogen storage disease XI - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2 March 2016. "LDHB gene". Genetics ... also known as glycogen storage disease XI) or lactate dehydrogenase-B deficiency. Both of these conditions affect how the body ... Glycogen storage disease Lactate Metabolic myopathies Oxidoreductase This article incorporates text from the public domain Pfam ... "Diseases - Metabolic Diseases - Causes/Inheritance". Muscular Dystrophy Association. 18 December 2015. Retrieved 2 March 2016. ...
Lafora disease
"Association for Glycogen Storage Disease - Lafora Disease". 17 October 2018. Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, ... Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has ... "Lafora Disease". AGSD-UK. 2018-10-17. Retrieved 2021-11-28. "Lafora disease , Genetic and Rare Diseases Information Center ( ... The glycogen in LD patients also has higher phosphate levels and is present in greater quantities. Lafora disease is diagnosed ...
Allopurinol
... glucose 6-phosphatase including glycogen storage disease; phosphoribosyl pyrophosphate synthetase, phosphoribosyl pyrophosphate ... Allopurinol cotherapy is used to improve outcomes for people with inflammatory bowel disease and Crohn's disease who do not ... neoplastic disease and myeloproliferative disease with high cell turnover rates, in which high urate levels occur either ... The specific diseases and conditions where it is used include gouty arthritis, skin tophi, kidney stones, idiopathic gout; uric ...
Liver disease
... and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease ... Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. ... Glycogen Storage Disease Type II (Pompe Disease). Seattle (WA): University of Washington, Seattle. PMID 20301438. " ... Non-alcoholic fatty liver disease is a spectrum of disease associated with obesity and metabolic syndrome. Hereditary diseases ...
Danon disease
AGSD - Association of Glycogen Storage Disease in the United States AGSD-UK - Association of Glycogen Storage Disease in the UK ... or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage ... Autophagic vacuolar myopathy Glycogen storage disease GSD-II (Pompe disease, formerly GSD-IIa) Inborn errors of carbohydrate ... January 1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology. 31 (1): 51-7. doi:10.1212/wnl.31.1.51 ...
Bioenergetic systems
"Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Wakelin A (2017). Living With McArdle Disease (PDF). IamGSD - International Association for Muscle Glycogen Storage Disease. ... International Association for Muscle Glycogen Storage Disease study group) (December 2021). " ... "Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study". Journal of Inherited Metabolic Disease. ...
Glucose 6-phosphatase
Mutations in both glucose 6-phosphatase-α and G6PT lead to glycogen storage disease type I (GSD 1, von Gierke's disease). To be ... 1993). "Glycogen Storage Disease Type I". PMID 20301489. {{cite journal}}: Cite journal requires ,journal= (help) Chou JY, ... Chou JY, Jun HS, Mansfield BC (December 2010). "Glycogen storage disease type I and glucose-6-phosphatase-β deficiency: ... "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex". Current Molecular Medicine. 2 (2): 121-43. ...
Shin Joong Oh
Moris J. Danon (1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology. 31 (1). doi:10.1212/WNL.31.1. ... Uniform type I fiber congenital neuromuscular disease as a new disease entity A second case of Danon disease Inventing "near- ... "Twelfth Annual Oh Lecture Looks at Neuromuscular Diseases". News Archive, The University of Alabama at Birmingham. Shin J Oh ( ... Shin J Oh (1983). "Nonprogressive Congenital Neuromuscular Disease With Uniform Type 1 Fiber". Archives of Neurology. 40 (3): ...
Glucose-6-phosphate exchanger SLC37A4
2) The absence of a functional G6PT1 enzyme causes glycogen storage disease type Ib, commonly referred to as von Gierke disease ... Narisawa K, Igarashi Y, Otomo H, Tada K (August 1978). "A new variant of glycogen storage disease type I probably due to a ... September 1999). "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate ... Chou JY, Matern D, Mansfield BC, Chen YT (March 2002). "Type I glycogen storage diseases: disorders of the glucose-6- ...
Barbara Illingworth Brown
She went on to research diseases related to the storage of glycogen where these enzymes were absent. She applied some of Carl ... She played a similar role in therapeutic research into glycogen storage disease type I. Her husband, David H. Brown, was also a ... Eberlein, Walter R; Illingworth, Barbara A; Sidbury, James B (1962). "Heterogeneous glycogen storage disease in siblings and ... "Portal diversion for the treatment of glycogen storage disease in humans". Annals of Surgery. 178 (4): 525-539. doi:10.1097/ ...
Phosphoglucomutase
... formerly known as glycogen storage disease type 14 (GSD XIV). The disease is both a glycogenosis and a congenital disorder of ... ISBN 978-0-07-079570-9. "Orphanet: Glycogen storage disease due to phosphoglucomutase deficiency". www.orpha.net. Retrieved May ... April 1988). "Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum ... Low ATP reservoir in muscles Glycogen storage disease Inborn errors of carbohydrate metabolism Metabolic myopathies Mutase ...
Tachycardia
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S; International Association for Muscle Glycogen Storage Disease ... Wakelin, Andrew (2017). Living With McArdle Disease (PDF). IAMGSD (International Assoc. of Muscle Glycogen Diseases). p. 15. ... It can occur in seemingly healthy individuals with no history of cardiovascular disease. Other causes may include autonomic ...
Pseudoathletic appearance
"Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446-463. doi:10.1097/GIM. ... "600332 - RIPPLING MUSCLE DISEASE 1; RMD1". omim.org. Retrieved 2023-07-03. "#606072 - RIPPLING MUSCLE DISEASE 2; RMD2". omim. ... "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037-1042 ... Reimers, C. D.; Schlotter, B.; Eicke, B. M.; Witt, T. N. (November 1996). "Calf enlargement in neuromuscular diseases: a ...
Sinus tachycardia
"Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Wakelin, Andrew (2017). Living With McArdle Disease (PDF). IAMGSD (International Association of Glycogen Storage Disease). p. ... International Association for Muscle Glycogen Storage Disease study group) (28 October 2021). " ... It is often a resulting symptom of a primary disease state and can be an indication of the severity of a disease. If the heart ...