GLUCOGENOSIS MUSCULAR 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. 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.

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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.

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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.

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[Metabolic Myopathies]

Published studies are primarily clinical and epidemiological research but also basic. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

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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. Myophosphorylase deficiency McArdle's disease , or glycogen storage disease type 5 GSD5 , is a severe form of glycogen storage disease characterized by exercise intolerance.

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