This image has been released into the public domain by its creator and original copyright holder. The disease is due to an anomaly in one of the last steps of glycolysis. Summary and related texts. Serum creatine kinase CK levels are increased between episodes of myoglobinuria.
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This image has been released into the public domain by its creator and original copyright holder. The disease is due to an anomaly in one of the last steps of glycolysis.
Summary and related texts. Serum creatine kinase CK levels are increased between episodes of myoglobinuria.
However, as a courtesy, a link back to http: Las medidas preventivas son evitar el tipo de ejercicio que induce las crisis y el ayuno. Less than 50 cases have been described so far. Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist. 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.
Treatment during the crisis includes hydration, glucose and alkalinization of urine if myoglobin in blood and urine are elevated. For all other comments, please send your remarks via contact us. Fosfglicerato miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos.
The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction. From Wikimedia Commons, the free media repository. El tratamiento fosfogliceratoo las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. 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.
Permission Reusing this file. 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. 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.
Other search option s Alphabetical list. 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 documents contained in this web site are presented for information purposes only. Cartoon representation of the molecular structure of protein registered with 1bq3 code.
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. The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0.
The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis. Protein structures from PDB Phosphoglycerate mutase. This page was last edited on 11 Marchat In case this is not legally possible: Specialised Social Services Eurordis directory.
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. Check this box if you wish to receive a copy of your message.
The following other wikis use this file: Transmission is autosomal recessive. Views View Edit History. Only comments written in English can be processed. These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. Most 10 Related.
FOSFOGLICERATO MUTASA PDF