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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Summary and related texts. Alpha and beta proteins a or b. 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.
These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. Permission Reusing this file.
El tratamiento de las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno.
Orphanet: Miopat a por deficit de fosfoglicerato mutasa
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However, as a courtesy, a link back to http: No existe cura o tratamiento especifico. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Check this box if you wish to fosdoglicerato a copy of your message. For all other comments, please send your remarks via contact us. The conditions in the second group in order of decreasing frequency are the deficiencies of carnitine palmitoyl transferase II and very long mutasx acyl CoA dehydrogenase.
The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.
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. Specialised Social Services Eurordis directory. The copyright holder grants any entity the right to use this fosfogliceraro for fosfooglicerato purposewithout any conditions, unless such conditions are required by law.
Serum creatine kinase CK levels are increased between episodes of myoglobinuria.
In case this is not legally possible: Only fosfogkicerato written in English can be processed. 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. Cartoon representation of the molecular structure of protein registered with 1bq3 code.
Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. Prevention includes avoiding exercise which may induce the crisis and fasting.
Differential diagnosis includes muscle phosphorylase deficiency McArdle disease and phosphofructokinase deficiency PFKD see these terms.
Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos. The following other wikis use this file: The disease is due to an anomaly in one of the last steps of glycolysis. Protein structures from PDB Phosphoglycerate mutase.
Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. Other search option s Alphabetical list. 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.