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. Gluconeog√©nesis. Ciclo de Cori. Balam Vargas Pe√Īaloza. Updated 18 September Transcript. Fosfoglicerato mutasa. Fosfoglucomutasa.

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Cartoon representation of the molecular structure of protein registered with 1bq3 code. To review the metabolic myopathies manifested only by crisis of fosfoglicersto, cramps and rigidity of the muscles with decreased voluntary contractions and normal inter crisis neurologic examination in children and adolescents.

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.

El tratamiento de las crisis consiste en hidratacion, glucosa y alcalinizacion de la orina. No existe cura o tratamiento especifico. For all other comments, please send your remarks via contact us. Alpha and beta proteins a or b. Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 70 Orphan drug s 0. The documents contained in this web site are presented for information purposes only.

File:PDB 1bq3 EBI.jpg

PD-link Files uploaded by Nichalp’s script. Protein structures from PDB Phosphoglycerate mutase.

Grafik des Molekularstruktur von jenem Protein, das fosfogliceerato 1bq3 code registriert ist. Other search option s Alphabetical list.


This page was last edited on 11 Marchmutasw The copyright holder grants any entity the right to use this work for any purposewithout any conditions, unless such conditions are required by law.

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. The end result is a reduction of intra fofoglicerato adenosine triphosphate, mainly through mitochondrial oxidative phosphorylation, with decrease of available energy for muscle contraction. Views View Edit History. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Term Bank – fosfoglicerato-mutasa – Spanish English Dictionary

Serum creatine kinase CK levels are increased between episodes of myoglobinuria. Muscle phosphoglycerate mutase deficiency PGAMD is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy.

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However, as a courtesy, a link back to http: GSD due to phosphoglycerate mutase deficiency GSD type 10 Glycogenosis due fosdoglicerato phosphoglycerate mutase deficiency Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: Specialised Social Services Fosfoglicefato directory. 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.


Retrieved from ” https: Transmission is autosomal recessive. In case this is not legally possible: Only comments written in English can be processed.

The conditions in the second group in order of fosfogliceratk frequency are the deficiencies of carnitine palmitoyl transferase II and very long chain acyl CoA dehydrogenase. 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.

Less than 50 cases have been described so far. These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms.

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

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