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. Only comments written in English can be processed. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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. Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos.
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Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. Summary and related texts. Permission Reusing this file. 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.
Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis.
For all other comments, please send your remarks via contact us. Differential diagnosis includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms. The disease is due to an anomaly in one of the last steps of glycolysis. Less than 50 cases have been described so far. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.
Prevention includes avoiding exercise which may induce the crisis and fasting. The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law.
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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. 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.
File:PDB 1bq3 EBI.jpg
Fosfooglicerato Social Services Eurordis directory. No existe cura o tratamiento especifico. Transmission is autosomal recessive. Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist. Alpha and beta proteins a or b.
File:PDB 1bq3 – Wikimedia Commons
This page was last edited on 11 Marchat 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. In case this is not legally possible: This image has been released into the public domain by its creator and original copyright holder.
The documents contained in this web site are presented for information fosfogpicerato only. 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 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 fosfogliceraho tests to achieve the final diagnosis.
Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno. Protein structures from PDB Phosphoglycerate mutase.
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 fosfgolicerato examination in children and adolescents. Retrieved from ” https: From Wikimedia Commons, the free media repository.
These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. Cartoon representation of the molecular structure of protein registered with 1bq3 code.
Serum creatine kinase CK levels are increased between episodes of myoglobinuria. 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. Views View Edit History.