Translation for ‘fosfoglicerato-mutasa’ in the free Spanish-English dictionary and many other English translations. Montse Mendoza. Updated 4 December Transcript. Ciclo de Krebs. Citratosintetasa. Oxalacetato. Gluconeogénesis. Ciclo de Cori. Balam Vargas Peñaloza. Updated 18 September Transcript. Fosfoglicerato mutasa. Fosfoglucomutasa.
|Published (Last):||24 June 2016|
|PDF File Size:||9.39 Mb|
|ePub File Size:||1.67 Mb|
|Price:||Free* [*Free Regsitration Required]|
Las caracteristicas diferenciales de los pacientes en cada grupo y dentro de cada grupo permitiran el diagnostico clinico presuntivo inicial en la mayoria y solicitar solamente los examenes necesarios para corroborar el fosfogljcerato. These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. Differential diagnosis includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Retrieved from ” https: The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis.
The conditions in the second group in order of decreasing frequency are the deficiencies of carnitine palmitoyl transferase II and very long chain acyl CoA dehydrogenase. For all other comments, please send your remarks via contact us.
Views View Edit History.
Specialised Social Services Eurordis directory. The following other wikis use this file: Transmission is autosomal recessive.
Rutas Metabolicas by Balam Vargas Peñaloza on Prezi
This image has been released into the public domain by its creator and original copyright holder. Serum creatine kinase CK levels are increased between episodes of myoglobinuria. The copyright holder grants any entity the right to ffosfoglicerato this work for any purposewithout any conditions, unless such conditions are required by law.
GSD due to phosphoglycerate mutase deficiency GSD type 10 Glycogenosis due to phosphoglycerate mutase deficiency Muscle fosfogglicerato mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: The documents contained in this web site are presented for fosfoglicegato purposes only. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. As such you are entirely free to reproduce it, create derivative works, or make commercial use of it as you see fit, without any requirement to give the creator credit.
Disease definition Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle mtuasa.
Other search option s Alphabetical list. However, as a courtesy, a link back to http: Only comments written in English can be processed. From Wikimedia Commons, the free media repository.
El tratamiento de las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. Protein structures from PDB Phosphoglycerate mutase. Permission Reusing this file. This page was last edited on 11 Marchat Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. El resultado final es mtuasa reduccion del trifosfato de adenosina principalmente a traves de la fosforilacion oxidativa mitocondrial con disminucion de la energia disponible para la contraccion muscular.
Alpha and beta proteins a or b. 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.
Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos. Summary and related texts. Cartoon representation of the molecular structure of protein registered with 1bq3 code. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. El pronostico es bueno con la excepcion de casos raros de insuficiencia renal aguda debido a la elevacion sanguinea de la mioglobina producto de una rabdomiolisis grave.
The differential characteristics of patients in each group and within each group will allow to make the initial presumptive clinical diagnosis in the majority and then to order only the necessary tests to achieve the final diagnosis.
PD-link Files uploaded by Nichalp’s script. No existe cura o tratamiento especifico. Less than 50 cases have been described so far. Prevention includes avoiding exercise which may induce the crisis and fasting. Los deficits enzimaticos en el primer grupo son de miofosforilasa glucogenosis Vfosfofructocinasa muscular glucogenosis VIIfosfoglicerato mutasa 1 glucogenosis X y beta enolasa glucogenosis XIIIy en el segundo, de carnitina palmitol transferasa tipo II y de acil-CoA deshidrogenasa de cadena muy larga.