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Metabolic myopathies

O. Papazian, R. Rivas-Chacón [REV NEUROL 2013;57 (Supl. 1):S65-S73] PMID: 23897158 DOI: https://doi.org/10.33588/rn.57S01.2013257

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Volumen 57 | Number S01 | Nº of views of the article 17.541 | Nº of PDF downloads 2.055 | Article publication date 06/09/2013

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ABSTRACT

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 one secondary to carbohydrates intra muscle metabolism disorders are triggered by high intensity brief (< 10 min) exercises. Those secondary to fatty acids metabolism disorders are triggered by low intensity prolonged (> 10 min) exercises. The conditions in the first group in order of decreasing frequency are the deficiencies of myophosforilase (GSD V), muscle phosphofructokinase (GSD VII), phosphoglycerate mutase 1 (GSD X) and beta enolase (GSD XIII). 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. KeywordsCarnitine palmitoyl transferase type II deficiency Metabolic myopathies Muscle phosphofructokinase deficiency Myophosforilase deficiency Very long chain acyl CoA dehydrogenase deficiency CategoriesNervios periféricos, unión neuromuscular y músculo

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