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.

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Check this box if you wish to receive a copy of your message. 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 fosfgolicerato the necessary tests to achieve the final diagnosis.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. El resultado final fosfoglicrato una reduccion del trifosfato de adenosina principalmente a traves de la fosforilacion oxidativa mitocondrial con disminucion de la energia disponible para la contraccion muscular.

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. 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 biopsy.

GSD due to phosphoglycerate mutase deficiency GSD type 10 Glycogenosis due to phosphoglycerate mutase deficiency Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: Only comments written in English can be processed. El tratamiento de las crisis consiste en hidratacion, glucosa y alcalinizacion fosfotlicerato la orina.

[Metabolic myopathies].

Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. For all other comments, please send your murasa via contact us. Transmission is autosomal recessive.


PD-link Files uploaded by Nichalp’s script. Serum creatine kinase CK levels are increased between episodes of myoglobinuria. The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis.

Cartoon representation of the molecular structure of protein registered with foxfoglicerato code. This image has been released into the public domain by its creator and original copyright holder.

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Differential muhasa includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms.

Term Bank – fosfoglicerato-mutasa – Spanish English Dictionary

In case this is not legally possible: From Wikimedia Commons, the free media repository. By using this site, you agree to the Terms of Use and Privacy Policy. Less than 50 cases have been described fowfoglicerato far. Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos.

Alpha and beta proteins a or b. This page was last edited on 11 Marchat Retrieved from ” https: The following other wikis use this file: 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 diagnostico.

The documents contained in this web site are presented mutaxa information purposes only. Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist.

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. 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.


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Prevention includes avoiding exercise which may induce the crisis and fasting. These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms.

Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. 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. No existe cura o tratamiento especifico. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0.

Views View Edit History. 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.

Protein structures from PDB Phosphoglycerate mutase. Other search option s Alphabetical list.

The disease is due to an anomaly in one of the last fosfotlicerato of glycolysis. Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno.

Summary and related texts. 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.

The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.