La glucogenosis tipo III es una enfermedad genética localizada en el cromosoma 1p21, It is clinically manifested with muscular and cardiac symptoms. degradación muscular, de manera que pueda su enfermedad muscular metabólica, y la MDA le .. Glucogenosis tipo 2, deficiencia de alfa-glucosidasa. La glucogenosis de tipo III se debe al déficit de la actividad de la enzima desramificadora. Casi todos estos enfermos tienen una afección hepática y muscular.

Author: Kagore Gajinn
Country: Chad
Language: English (Spanish)
Genre: Finance
Published (Last): 9 April 2018
Pages: 190
PDF File Size: 20.54 Mb
ePub File Size: 15.82 Mb
ISBN: 891-1-93682-358-4
Downloads: 53444
Price: Free* [*Free Regsitration Required]
Uploader: Kazrarr

Published studies are primarily clinical and epidemiological research but also basic. Are you a health professional able to prescribe or dispense drugs?

Glycogen storage disease

In other projects Wikimedia Commons. From Wikipedia, the free encyclopedia. Renal failure by myoglobinuriasecond wind phenomenon. Congenital form of glycogen storage disease type IV: Webarchive template wayback links Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from November Articles to be expanded from November All articles to be expanded Articles using small message boxes Wikipedia articles with NDL identifiers.

Retrieved 23 March There was null activity of myophosphorylase in muscle biopsy of both cases, so a diagnosis of McArdle disease was made. Continuing navigation will be considered as acceptance of this use. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption.


Orphanet: Glucogenosis muscular

McArdle disease is the most common disorder of skeletal muscle carbohydrate metabolism. Overall, according to a study in British Columbiaapproximately 2.

Summary and related texts. Disaccharide catabolism Congenital alactasia Sucrose intolerance. The cases are presented on 2 patients who were referred to our medical consultation to study the cause of their increased CK levels: Health care resources for this disease Expert centres Diagnostic tests Patient organisations 48 Orphan drug s Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Muscle glycogen musvular PYGM. Subscriber If you already have your login data, please click here. Prevention muxcular avoiding exercise which may induce the crisis and fasting. Skeletal Deformities in Mucolipidosis The genes and proteins of atherogenic lipoprotein production.

Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno. The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis. To review the metabolic myopathies manifested only by crisis of myalgias, cramps and rigidity of the muscles with decreased voluntary contractions and normal inter crisis neurologic examination in children and adolescents.



No existe cura o tratamiento especifico. Treatment is dependent on the type of glycogen storage disease. Only comments written in English can be processed. Rev Endocr Metab Disord.

There was a problem providing the content you requested

Carolina Glucogenosi Morrondo a. Glycogen debranching enzyme AGL. Article by Lynne Ierardi-Curto”. Tophaceous Gout of the Shoulder There was null activity of myophosphorylase in muscle biopsy of both cases, so a diagnosis of McArdle disease was made. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.

Myopathies are one of the causes of elevated levels of CK. You can change the settings or obtain more information by clicking here. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Glycogen storage myopathy Prevalence: El electromiograma EMG fue normal en ambos pacientes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine. Essential fructosuria Fructose intolerance.