FOSFOGLICERATO MUTASA PDF

Aim: 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. Development: These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction. 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.

Author:Gujinn Meztile
Country:Libya
Language:English (Spanish)
Genre:Finance
Published (Last):14 July 2008
Pages:468
PDF File Size:10.70 Mb
ePub File Size:4.37 Mb
ISBN:138-7-57415-618-9
Downloads:35063
Price:Free* [*Free Regsitration Required]
Uploader:Zologore



Aim: 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. Development: These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. The end result is a reduction of intra muscle adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction.

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. Conclusions: 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.

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.

The prognosis is good with the exception of rare cases of acute renal failure due to hipermyoglobinemia because of severe rabdomyolisis. Title: Miopatias metabolicas. Estas miopatias metabolicas se deben a deficits enzimaticos heredados en forma autosomica recesiva del metabolismo de los carbohidratos y lipidos.

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. Los deficits enzimaticos en el primer grupo son de miofosforilasa glucogenosis V , fosfofructocinasa muscular glucogenosis VII , fosfoglicerato mutasa 1 glucogenosis X y beta enolasa glucogenosis XIII , y en el segundo, de carnitina palmitol transferasa tipo II y de acil-CoA deshidrogenasa de cadena muy larga.

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. 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. No existe cura o tratamiento especifico. 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.

This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! Clipboard, Search History, and several other advanced features are temporarily unavailable. Search: Search.

Advanced Clipboard. Create file Cancel. Email citation To:. Format: Summary Summary text Abstract Abstract text. Send email Cancel. Add to Collections Create a new collection Add to an existing collection. Name your collection: Name must be less than characters.

Choose a collection: Unable to load your collection due to an error Please try again. Add Cancel. Add to My Bibliography My Bibliography. Unable to load your delegates due to an error Please try again. Your saved search Name of saved search:. Search terms:. Test search terms. Would you like email updates of new search results? Email: change. Frequency: Monthly Weekly Daily. Which day? Send at most: 1 item 5 items 10 items 20 items 50 items items items.

Send even when there aren't any new results. Optional text in email:. Save Cancel. Create a file for external citation management software Create file Cancel. Full-text links Cite Favorites. Abstract in English , Spanish. Comment in [Mitochondrial diseases]. Miguel-Soca PE. Rev Neurol.

PMID: Spanish. Similar articles Metabolic myopathies. Bosch EP, et al. Med Clin North Am. PMID: Review. No abstract available. Disorders of glycogen and lipid metabolism. DiMauro S, et al. Adv Neurol. PMID: No abstract available. A review in summarized form].

Schaub J. Monatsschr Kinderheilkd. State of the art in muscle lipid diseases. Liang WC, Nishino I. Liang WC, et al. Acta Myol. Metabolic Myopathies.

Tarnopolsky MA. Continuum Minneap Minn. Show more similar articles See all similar articles. Publication types English Abstract Actions. Review Actions. MeSH terms Adolescent Actions. Exercise Tolerance Actions. Genes, Recessive Actions. Humans Actions. Infant, Newborn Actions. Muscle Contraction Actions.

Substances Carnitine O-Palmitoyltransferase Actions. Glycogen Phosphorylase, Muscle Form Actions. Phosphofructokinase-1, Muscle Type Actions. Supplementary concepts Carnitine palmitoyl transferase 2 deficiency Actions.

Full-text links [x] Viguera Editores, S. Copy Download.

DANFOSS EKC 102A PDF

Fosfoglucomutasa

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy.

ARMANDO ROA MODERNIDAD POSMODERNIDAD PDF

Ácido 2,3-bisfosfoglicérico

From Wikimedia Commons, the free media repository. File information. Structured data. Captions English Add a one-line explanation of what this file represents. English: Cartoon representation of the molecular structure of protein registered with 1bq3 code. Deutsch: Grafik des Molekularstruktur von jenem Protein, das mit 1bq3 code registriert ist. This image has been released into the public domain by its creator and original copyright holder.

ERNEST ABERS QUANTUM MECHANICS PDF

"fosfoglicerato-mutasa" in English

.

ANSI Z133 PDF

[Metabolic Myopathies]

.

Related Articles