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

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

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 fosfogilcerato necesarios para corroborar el diagnostico. Cartoon representation of the molecular structure of protein registered with 1bq3 code.

In case this is not legally possible: Los deficits enzimaticos en el primer grupo son de miofosforilasa glucogenosis Vfosfofructocinasa muscular glucogenosis VIIfosfoglicerato mutasa 1 glucogenosis X mutxsa beta enolasa glucogenosis XIIIy en el segundo, de carnitina palmitol transferasa tipo II y de acil-CoA deshidrogenasa de cadena muy larga.

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

Orphanet: Miopat a por deficit de fosfoglicerato mutasa

Retrieved from ” https: Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los fosfoglcierato y lipidos. Transmission is autosomal recessive.

Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. The following other wikis use this file: These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms.


El fosfoglicearto de las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. To review the metabolic fosfoglicerat 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. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.

Serum creatine kinase CK levels are increased between episodes of myoglobinuria. As such you are entirely free to reproduce mutaza, create derivative works, or make commercial use of it as you see fit, without any requirement to give the creator credit. 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. Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno.

No existe cura o tratamiento especifico. Protein structures from PDB Phosphoglycerate mutase. Summary and related texts. This page was last edited on 11 Marchat Permission Reusing this file.


The documents contained in this web site are presented for information purposes only. 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: 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.

However, as a courtesy, a link back to http: Only comments written in English can be processed. 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.


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. Fosfoglicrrato des Molekularstruktur dosfoglicerato jenem Protein, das mit 1bq3 code registriert ist. PD-link Files uploaded by Nichalp’s script. Views View Edit History. Only comments seeking to improve the quality and accuracy of information on the Orphanet website muyasa accepted.

For all other comments, please send your remarks via contact us. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. The disease is due to an anomaly in one of the last steps of glycolysis.

From Wikimedia Commons, the free media repository. Less than 50 cases have been described so far. Check this box if you wish to receive a copy of your message.

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The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis. The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law. Prevention includes avoiding exercise which may induce the crisis and fasting.

Other search option rosfoglicerato Alphabetical list.