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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The documents contained in this web site are presented for information purposes only. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.

Views View Edit History. Summary and related texts. Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. El resultado final es una reduccion del trifosfato de adenosina principalmente a traves de la fosforilacion oxidativa mitocondrial con disminucion de la energia disponible para la contraccion muscular.

The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law. Serum creatine kinase CK levels are increased between episodes of myoglobinuria. El tratamiento de las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. 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.

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 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. Check this box if you wish to receive a copy of your message. Las medidas preventivas son evitar el tipo de ejercicio que induce ffosfoglicerato crisis y el ayuno.


The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis fosfogliceratoo diagnosis or treatment. Transmission is autosomal recessive. However, as a courtesy, a link back to http: Retrieved from ” https: No existe cura o tratamiento especifico. The prognosis is good with the exception of rare cases of fosfoglicerto renal failure due to hipermyoglobinemia because of severe rabdomyolisis.

In case this is not legally possible: This page was last edited on 11 Marchat GSD due to phosphoglycerate mutase deficiency GSD type 10 Glycogenosis due to phosphoglycerate mutase deficiency Muscle phosphoglycerate fosfogllicerato deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: 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.

Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy.

Less than 50 cases have been described so far.

“fosfoglicerato-mutasa” in English

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. 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.

Cartoon representation of the molecular jutasa of protein registered with 1bq3 code. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.


File:PDB 1bq3 – Wikimedia Commons

Los deficits enzimaticos en fosfoglicerafo 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.

Specialised Social Services Eurordis directory. Alpha and beta proteins a or b. By using this site, you agree to the Terms of Use and Privacy Policy. Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist. Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos. The disease is due to an anomaly in one of the last steps of glycolysis.


From Wikimedia Commons, the free media repository. These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms.

Only comments written in English can be processed. For all other comments, please send your remarks mugasa contact us. The following other wikis use this file: 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.

Protein structures from PDB Phosphoglycerate mutase. Prevention includes avoiding mutasz which may induce the crisis and fasting. Other search option s Alphabetical list.

Permission Reusing this file. Differential diagnosis includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms. This image has been released into the public domain by its creator and original copyright holder.

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