La enfermedad de Von Gierke, también conocida como enfermedad de deposito de glucógeno tipo Ia, es una enfermedad producida por la. VON GIERKE DISEASE: NEW TRENDS IN MANAGEMENT. [online]. , vol, n.2, pp ISSN Von Gierke disease, also known. English Translation, Synonyms, Definitions and Usage Examples of Spanish Word ‘enfermedad de von Gierke’.
|Published (Last):||28 December 2014|
|PDF File Size:||4.59 Mb|
|ePub File Size:||12.26 Mb|
|Price:||Free* [*Free Regsitration Required]|
Transversal 3 No3er Piso. Glucosephosphate is transported from the cytosol into the lumen of the endoplasmic reticulum ER through the actions of the glucosephosphate transporter 1 G6PT1 which is encoded by the SLC37A4 gene. Neither you, nor the coeditors you shared it with will be able to recover it again. Evidence indicates that this glucose transport occurs via GLUT2 in the liver as this glucose transporter is transiting the ER to the plasma membrane following its synthesis. The treatment consists of nutritional therapy associated with a number of conventional drugs.
This discovery was the first ever identification of an enzyme defect in a metabolic disorder. In addition, some of the pyruvate is transaminated to alanine leading to hyperalaninemia. In addition, patients have thin extremities, a short stature, and protuberant abdomens due to the severe hepatomegaly.
Type 1 Glycogen Storage Diseases
However, later kinetic studies demonstrated that the defect was actually in the G6PT1 protein. Giwrke glucosephosphate transporter 1 protein is a member of the solute carrier family of membrane transporters.
Patients with type 1 glycogen storage disease can present during the neonatal period with lactic acidosis and hypoglycemia. Long-term complications are usually only seen now in adults whose disease was poorly treated early on.
Alteraciones presentes en la glucogenesis de Von Gierke by Maria Jose Bonilla Rodriguez. on Prezi
In addition, the increased pyruvate is gieeke via the pyruvate dehydrogenase complex PDHc leading to increased production of acetyl-CoA which is, in turn, used for the synthesis of fatty acids and cholesterol. The common treatment for type 1 glycogen storage disease is to maintain normal blood glucose concentration.
Some patients may require renal or liver transplant.
Check out this article to learn more or contact your system administrator. The SLC37A4 gene is located on chromosome 11q The mechanism by which free glucose is released from glucosephosphate involves several different steps.
Vanadium containing chloroperoxidase has a similar structure and enfermedad de von gierke site as glucosephosphatase. In excess of the need, these purine nucleotides will ultimately be catabolized to uric acid resulting in hyperuricemia and consequent symptoms of gout.
Se moviliza cuando surge una necesidad: Twelve additional mutations have been mapped to the G6PC gene: Some of the pyruvate will be oxidized to acetyl-CoA which can’t be fully oxidized in the TCA cycle and so the acetyl-CoA will end up in the cytosol where it will serve as a substrate for triglyceride and cholesterol synthesis resulting in hyperlipidemia.
Type 1 Glycogen Storage Diseases: von Gierke Disease
Transversal 3 No3er Piso. It enfermedad de von gierke known that odd-chain fatty acids can be oxidized to yield propionyl-CoA, a precursor for succinyl-CoA, in plants, specifically seedlings, the glyoxylate cycle can be used to convert fatty acids into the primary enffrmedad source of the organism. Von Gierke disease, also known as bierke storage disease type Ia, is a disease caused by deficiency of the G6Pase-a catalytic unit, which ggierke glucose phosphate in the cell cytoplasm during gluconeogenesis and glycogenolysis.
The oxidation of glucosephophate via the pentose phosphate pathway leads to increased production of ribosephosphate which then activates the de novo synthesis of the purine nucleotides. Creating downloadable prezi, be patient.
A enfermedac from ancient Greek: Comments 0 Please log in to add your comment. Subsequent to the identification of the pathway of glucose release from glucosephosphate, additional patients with similar clinical manifestations to von Gierke disease were identified.
ENFERMEDAD DE VON GIERKE PDF
Current nomenclature classifies GSD type I patients as either type 1a or non-1a. With normoglycemia will come reduced metabolic disruption and a reduced morbidity associated with the disease.
This mutation has, thus far, only been found in Hispanic patients. Copy code to clipboard. Do you really want to delete this prezi? Enrermedad cure has been found for this disease and it can turn out to be lethal if no appropriate management is given during the first two decades of life.
The existence of cycles in humans has not been established.
The amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene and mutations to it, are at the root of this condition. Maria Jose Bonilla Rodriguez. More commonly though, infants of 3—4 months of age will manifest with hepatomegaly and hypoglycemic seizures. Affected female patients will snfermedad polycystic ovaries but none of the other symptoms of polycystic ovarian syndrome PCOS such as hirsutism.