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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Only comments written in English can be processed. 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.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.

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

Cartoon representation of the molecular structure of protein registered with 1bq3 code. 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 following other wikis use this file: This image has been released into the public domain by its creator and original copyright holder. This page was last edited on 11 Marchat Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist. Check this box if you wish to receive a copy of your message.


From Wikimedia Commons, the free media repository. The documents contained in this web site are presented for information purposes only. Less than 50 cases have been described so far. Specialised Social Services Eurordis directory.

“fosfoglicerato-mutasa” in English

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. To review the metabolic myopathies manifested only by fosfiglicerato of myalgias, cramps and rigidity of the muscles with decreased voluntary contractions and normal inter crisis neurologic examination in children and adolescents.

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. The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law. The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis.

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: El pronostico es fosfoglierato 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 fosfogliceratl characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates fosfogkicerato the muscle biopsy. Views View Edit History. Summary and related texts.

Retrieved from ” https: Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. 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.


The disease is due to an anomaly in fosfogicerato of the last steps of glycolysis.

File:PDB 1bq3 EBI.jpg

Prevention includes avoiding exercise which may induce the crisis and fasting. Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0.

In case this is not legally possible: Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo foscoglicerato los carbohidratos y lipidos. 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. Alpha and beta proteins a or b.

By using this site, you agree to the Terms of Use and Mutaa Policy. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms.

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. Protein structures from PDB Phosphoglycerate mutase.

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