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*  Phosphofructokinase deficiency
"Tarui disease". The Swedish Information Center for Rare Diseases. University of Gothenburg. "Glycogen Storage Disease Type VII ... Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases ... Phosphofructokinase deficiency, also known as glycogen storage disease type VII or Tarui's disease, is a extremely rare ... "Glycogen Storage Disease Type VII". Genetics Home Reference. US National Library of Medicine. Toscano A, Musumeci O (October ...
*  Glycogen storage disease type I
Glycogen-Storage Disease Type I at eMedicine The Association for Glycogen Storage Disease: Type I Glycogen Storage Disease Type ... Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen storage diseases. This ... 1993). "Glycogen Storage Disease Type I". PMID 20301489. Online Mendelian Inheritance in Man (OMIM) Glycogen Storage Disease Ib ... "Glycogen storage disease type I". Genetics Home Reference from U.S. National Library of Medicine & National Institutes of ...
*  Ketotic hypoglycemia
Especially Glycogen storage disease type IX can be a common cause for ketotic hypoglycemia, with the most common sub-type IXa ... "Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children", Journal of Inherited Metabolic Disease ... If known causes for ketotic hypoglycemia such as the ketotic Glycogen Storage Disease subtypes can be ruled out, it has been ... Raw cornstarch dissolved in a beverage helps individuals with hypoglycemia, especially that caused by Glycogen Storage Disease ...
*  Glycogen storage disease
Updated: Aug 31, 2009 The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD Archived 2010- ... Glycogen Metabolism themedicalbiochemistrypage.org eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth ... Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008 Goldman, Lee; ... Treatment is depended on the type of glycogen storage disease. E.g. GSD I is typically treated with frequent small meals of ...
*  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 ( ... metabolic diseases such as Glycogen storage disease type III can result. Glucosyltransferase and glucosidase are performed by a ...
*  Glucose 6-phosphatase
"Glycogen Storage Disease Type I". PMID 20301489. Chou JY, Matern D, Mansfield BC, Chen YT (March 2002). "Type I glycogen ... Mutations in both glucose-6-phosphatase-α and G6PT lead to glycogen storage disease type I (GSD 1, von Gierke's disease). To be ... Chou JY, Jun HS, Mansfield BC (December 2010). "Glycogen storage disease type I and glucose-6-phosphatase-β deficiency: ... "Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability". ...
*  Lysosomal storage disease
... storage disease Glycogen storage diseases Type II Pompe disease Type IIb Danon disease Other Cholesteryl ester storage disease ... Type A) MPS III B (Type B) MPS III C (Type C) MPS III D (Type D) Type IV (Morquio) MPS IVA (Type A) MPS IVB (Type B) Type VI ( ... glycoprotein storage disorders (E77.0-E77.1) mucolipidoses Also, glycogen storage disease type II (Pompe disease) is also a ... Type 4 Kufs disease / adult NCL (CLN4) Type 5 Finnish Variant / late infantile (CLN5) Type 6 Late infantile variant (CLN6) Type ...
*  Glycogen-branching enzyme deficiency
Glycogen storage disease type IV "Testing for Genetic Diseases" Equus 353, pp 40-41. Valberg, SJ; Ward, TL; Rush, B; Kinde, H; ... 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 bond may be broken by amylase when the body wishes to break down glycogen into glucose for energy. Glycogen branching ...
*  Glycogen synthase
"Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". The ... Mutations in the GYS1 gene are associated with glycogen storage disease type 0. In humans, defects in the tight control of ... The control of glycogen synthase is a key step in regulating glycogen metabolism and glucose storage. Glycogen synthase is ... Patients with type 2 diabetes normally exhibit low glycogen storage levels because of impairments in insulin-stimulated ...
*  Glycogenin-1
A Glycogenin-1 deficiency leads to Glycogen storage disease type XV. Deficiency of glycogenin-1 is detected in the sequence of ... glycogen synthase (GS), and for its degradation, glycogen phosphorylase (GF). Glycogenin is the initiator of the glycogen ... It also plays a role in glycogen metabolism regulation and in the maximal glycogen levels attaintment in skeletal muscle. ... Glucose Glycogen Glycogen synthase Glycogenin Gene Mutation GRCh38: Ensembl release 89: ENSG00000163754 - Ensembl, May 2017 ...
*  Glycogen storage disease type II
"Type II Glycogen Storage Disease". The Association for Glycogen Storage Disease. Archived from the original on 23 June 2012. ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Fact files on Pompe Disease Understanding Pompe ... It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease) at eMedicine Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, ...
*  Glycogen storage disease type XI
... is a form of glycogen storage disease. It is also known as "Fanconi-Bickel syndrome", for ... The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting ...
*  Glycogen storage disease type 0
"Glycogen-Storage Disease Type 0" "Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency". www.orpha. ... e condition glycogen storage disease type 0 to be considered, they are: Glycogen storage disease due to liver glycogen synthase ... oligosymptomatic siblings in several glycogen-storage disease type 0 families has suggested that glycogen-storage disease type ... Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GYS). Although ...
*  Glycogen storage disease type IX
Glycogen storage disease "Glycogen storage disease type IX". Genetics Home Reference. Retrieved 2016-08-06. Goldstein, Jennifer ... glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual. Mutations in PHKA2 have ... Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and ... Glycogen storage disease type IX can be inherited via: X-linked recessive inheritance due to mutations at either PHKA1 or the ...
*  Glycogen storage disease type V
... (GSD-V) is a metabolic disorder, more specifically a glycogen storage disease, caused by a ... The Association for Glycogen Storage Disease The Association for Glycogen Storage Disease (UK) McArdle information McArdle ... Its incidence is reported as 1 in 100,000, approximately the same as glycogen storage disease type I. The disease was first ... Disease Emergencies - AGSD (UK) Information About McArdle's Disease GeneReview/NIH/UW entry on Glycogen Storage Disease Type V ...
*  Glycogen storage disease type IV
... , also known as Anderson's Disease, is a form of glycogen storage disease, which is caused by ... of all Glycogen Storage Diseases being type IV. It is also known as: Glycogenosis type IV Glycogen branching enzyme deficiency ... rarediseases.org/rare-diseases/andersen-disease-gsd-iv/ "Glycogen Storage Disease Type IV." Genetics Home Reference. U.S. ... The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, ...
*  Glycogen storage disease type III
"glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07. "Glycogen storage disease type 3 , Genetic ... "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 ... Clinical manifestations of glycogen storage disease type III are divided into four classes: GSD IIIa, is the most common, ( ...
*  Glycogen storage disease type VI
... (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen ... ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI. ... Phosphorylase kinase Glycogen-Storage Disease Type VI at eMedicine Hers HG (1959). "[Enzymatic studies of hepatic fragments; ... The scope of GSD VI now also includes glycogen storage disease type VIII, IX (caused by phosphorylase b kinase deficiency) and ...
*  DMOZ - Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Glycogen Storage Disease Type II
Large amounts of glycogen accumulate in the lysomes of skeletal muscle ( muscle, skeletal); heart; liver; spinal cord; and ... An autosomal recessively inherited glycogen storage disease caused by glucan 1,4-Alpa-Glucosidase Definciency. ... Health Conditions and Diseases Neurological Disorders Brain Diseases Glycogen Storage Disease Type II 4 ... "Health ... Glycogen Storage Disease Type II" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ...
*  DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Glycogen Storage Disease Type I
The Association For Glycogen Storage Disease The Association for Glycogen Storage Disease is a parent and patient oriented ... Health Conditions and Diseases Nutritional and Metabolic Disorders Inherited Glycogen Storage Disease Type I 3 ... Glycogen Storage Disease Type I : Article by Karl S Roth, MD Clinical article covering all aspects of this disease including ... "Health ... Glycogen Storage Disease Type I" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ...
*  G6PC
Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). Click on genes, proteins and metabolites ... Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in ... 1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies". Am. J. Med. Genet. 72 (3): ... Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP". J. Inherit. Metab. Dis. 13 (3): 247- ...
*  SLC37A4
Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in ... Gerin I, Veiga-da-Cunha M, Noël G, Van Schaftingen E (1999). "Structure of the gene mutated in glycogen storage disease type Ib ... 1999). "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter ... 1998). "Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q". J. Med. Genet. 35 (4): ...
*  Liver disease
Glycogen Storage Disease Type II (Pompe Disease). Seattle (WA): University of Washington, Seattle. PMID 20301438. " ... Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease type II. In ... Liver disease (also called hepatic disease) is a type of damage to or disease of the liver. There are more than a hundred ... Non-alcoholic fatty liver disease is a spectrum of disease associated with obesity and metabolic syndrome. Hereditary diseases ...
*  Corn starch
"Efficacy of cornstarch therapy in type III glycogen-storage disease". The American Journal of Clinical Nutrition. 52 (4): 671- ... It has medical uses, such as to supply glucose for people with glycogen storage disease. Like many products in dust form,it can ... Cornstarch has properties enabling supply of glucose to maintain blood sugar levels for people with glycogen storage disease. ... "GSD Type 1". GSD Life. Archived from the original on 2013-11-02. Retrieved 2013-10-31. "International Starch: Production of ...
*  Peter J. Taub
Perioperative management of patients with glycogen storage disease type Ia. Plast Reconstr Surg. 2008 Jul;122(1):42e-43e. doi: ...
*  Metabolism
... protein kinases that cause the cells to take up glucose and convert it into storage molecules such as fatty acids and glycogen ... Reaction centers are classed into two types depending on the type of photosynthetic pigment present, with most photosynthetic ... Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabási AL (May 2007). "The human disease network". Proc. Natl. Acad. Sci. U.S. ... The metabolism of glycogen is controlled by activity of phosphorylase, the enzyme that breaks down glycogen, and glycogen ...
*  Staining
... glycogen, glycoprotein, proteoglycans). It is used to distinguish different types of glycogen storage diseases. Masson's ... This kind of staining is important especially to show proteins (for example type III collagen) and DNA. It is used to show both ... Carmine is an intensely red dye used to stain glycogen, while Carmine alum is a nuclear stain. Carmine stains require the use ... Vital stain: stains that do not kill cells PAGE: separation of protein molecules Barium enema - a type of in vivo stain that ...