Chou JY, Matern D, Mansfield BC, Chen YT (2002). "Type 1 Glycogen Storage Diseases: Disorders of the Glucose-6-Phosphatase ... Glomerular diseases, such as membranous glomerulonephritis, focal segmental glomerulonephritis, minimal change disease (lipoid ... The 2005 UK Chronic Kidney Disease guidelines state that protein/creatinine ratio is a better test than 24-hour urinary protein ... Proteinuria secondary to autoimmune disease should be treated with steroids or steroid-sparing agent plus the use of ACE ...
Defects in the enzyme cause glycogen storage disease type I (von Gierke disease).[6] ... R83C in six Jews and a novel V166G mutation in a Muslim Arab". J. Inherit. Metab. Dis. 18 (1): 21-7. doi:10.1007/BF00711368. ... Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP". J. Inherit. Metab. Dis. 13 (3): 247- ... Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in ...
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): ...
... mutated in glycogen storage disease type Ib". FEBS Letters. 419 (2-3): 235-8. doi:10.1016/s0014-5793(97)01463-4. PMID 9428641. ... All currently recognized MFS permeases have the two six-TMH domains within a single polypeptide chain, although in some MFS ... and glucose storage diseases. Disease associated mutations have been found in a number of human MFS transporters; those ... is mutated in sialic acid storage diseases". Nature Genetics. 23 (4): 462-5. doi:10.1038/70585. PMID 10581036. Coucke PJ, ...
Li DZ, Liao C, Tang XW (2007). "Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the ... Glucose-6-phosphatase 2 is an enzyme that in humans is encoded by the G6PC2 gene. This gene encodes an enzyme belonging to the ... 562 (1-3): 160-4. doi:10.1016/S0014-5793(04)00223-6. PMID 15044018. Shieh JJ, Pan CJ, Mansfield BC, Chou JY (2006). "In islet- ... These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the ...
An example is Hers' disease - Glycogen storage disease type VI - caused by deficiency of hepatic phosphorylase associated with ... and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A ... Lederer B, Van Hoof F, Van den Berghe G, Hers H., Glycogen phosphorylase ...
Deficiency of phosphoglycerate mutase causes glycogen storage disease type VI (GSD VI, Hers' disease), a rare autosomal ... Glycogen storage disease type X).[citation needed] Onset is generally noted as childhood to early adult though some who may be ... The mb-isozyme is found in cardiac and skeletal muscle and the bb-type is found in the rest of tissues. While all three ... The disease is not progressive and has an excellent prognosis.[citation needed] BPGM; PFKFB1; PFKFB2; PFKFB3; PFKFB4; PGAM1; ...
1993). "Glycogen Storage Disease Type I". PMID 20301489.. Cite journal requires ,journal=. (help). ... Chou JY, Matern D, Mansfield BC, Chen YT (March 2002). "Type I glycogen storage diseases: disorders of the glucose-6- ... "Glycogen storage disease type I and glucose-6-phosphatase-β deficiency: etiology and therapy". Nature Reviews. Endocrinology. 6 ... "Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability". ...
... has been implicated in glycogen storage disease type VI, also known as Hers disease, and both type 1 and type 2 diabetes. ... In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the ... Glycogen-induced hepatomegaly in type 1 diabetes and glycogen storage disease type VI present similar clinical manifestations ... "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Human Molecular Genetics. 7 ...
2) The absence of a functional G6PT1 enzyme causes glycogen storage disease type Ib, commonly referred to as von Gierke disease ... Apr 1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am J Hum Genet. 62 (2): 400-5. doi:10.1086 ... mutated in glycogen storage disease type Ib". FEBS Lett. 419 (2-3): 235-8. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641. ... A common symptom of this disease is a build-up of glycogen in the liver and kidney causing enlargement of the organs. 3) G6PT1 ...
Disease (glycogen storage disease type VI).[18][19] Hers' disease is often associated with mild symptoms normally limited to ... GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type VI - Hers disease ... "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Hum. Mol. Genet. 7 (5): 865- ... Mutations in the muscle isoform of glycogen phosphorylase (PYGM) are associated with glycogen storage disease type V (GSD V, ...
Glycogen storage disease type V - muscle glycogen Glycogen storage disease type VI - liver glycogen Hydrolase Lehninger ... Phosphorylase is also a common name used for glycogen phosphorylase in honor of Earl W. Sutherland Jr. who in the late 1930s ... 603 Muscle phosphorylase deficiency - McArdle's Disease Website Phosphorylases at the US National Library of Medicine Medical ... P-B They include allosteric enzymes that catalyze the production of glucose-1-phosphate from a glucan such as glycogen, starch ...
Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008 Goldman, Lee; ... Updated: Aug 31, 2009 The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD Archived 2010- ... "Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto". eMedicine. [https://www.omim.org/entry/306000 GLYCOGEN ... Glycogen Metabolism themedicalbiochemistrypage.org eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth ...
The differential diagnosis list includes glycogenoses types III and VI, fructose 1,6-bisphosphatase deficiency, and a few other ... 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 ...
... 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 ... 110 (1): 21-9. doi:10.1007/s00439-001-0638-6. PMID 11810292. Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October ...
... (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 ...
... (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 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 ...
The differential diagnosis of glycogen storage disease type III includes GSD I, GSD IX and GSD VI. This however does not mean ... "glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07. "Glycogen storage disease type 3 , Genetic ... other glycogen storage diseases should not be distinguished as well. Clinical manifestations of glycogen storage disease type ... "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi: ...
Defects in phosphorylase kinase genes are the cause of glycogen storage disease type IX (GSD type IX) and GSD type VI (formerly ... Measurement of type-1 and type-2 protein phosphatases in extracts of mammalian tissues; an assessment of their physiological ... triggering a conformational shift which favors the more active glycogen phosphorylase "a" form over the less active glycogen ... phosphorylase kinase plays the important role of stimulating glycogen breakdown into free glucose by phosphorylating glycogen ...
GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III OMIM entries on Glycogen Storage Disease Type III Glycogen ... It is thought to bind to six glucose molecules of the chain as well as the branched glucose, thus corresponding to 7 subunits ... 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 ( ...
OMIM entries on Glycogen Storage Disease Type III. *reactome.org: Debranching enzyme transfers 3-glucose blocks from branches ... "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is ... juli 2010). "Glycogen storage disease type III diagnosis and management guidelines". Genet. Med. 12 (7): 446-63. doi:10.1097/ ... GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III. * ...
A deficiency muscle glycogen phosphorylase is known as Glycogen storage disease type V (McArdle Disease). To be utilized in ... Phosphoglucomutase-1 deficiency is known as glycogen storage disease type 14 (GSD XIV). In glycogenesis, free glucose 1- ... Pentose phosphate pathway Orphanet: Glycogen storage disease due to phosphoglucomutase deficiency. ... It can then return to the greater glycogen structure via glycogen synthase. β-Glucose 1-phosphate is found in some microbes. It ...
Glycogen storage disease type I GRCh38: Ensembl release 89: ENSG00000124564 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... mutation analysis in glycogen storage disease type Ic". J. Inherit. Metab. Dis. 27 (6): 725-33. doi:10.1023/B:BOLI. ... but not to coronary artery disease". PLoS ONE. 4 (11): e7729. doi:10.1371/journal.pone.0007729. PMC 2766838 . PMID 19890391. ...
"Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)".. ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) ... Errors in this gene cause glycogen storage disease type II (Pompe disease). ... Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive ...
Kostmann syndrome Neutropenia with cardiac and urogenital malformations Glycogen storage disease type 1b Cyclic neutropenia X- ... type 1a (CD95 defects), type 1b (Fas ligand defects), type 2a (CASP10 defects), type 2b (CASP8 defects) (b) APECED (autoimmune ... P14 deficiency Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency type 2 Leukocyte adhesion deficiency type 3 ... Chronic granulomatous disease: autosomal (NCF1) Chronic granulomatous disease: autosomal (NCF2) IL-12 and IL-23 β1 chain ...