Therapie hereditärer metabolischer Myopathien

Zusammenfassung

Hereditäre metabolische Myopathien sind durch Enzymdefekte im Energiestoffwechsel des Muskels bedingt. Dabei unterscheidet man Glykogenosen, Lipidmyopathien und mitochondriale Myopathien (= Atmungskettendefekte). Eine Enzymersatztherapie steht für den Alpha-Glukosidase-Mangel (Pompe-Erkrankung) zur Verfügung. Diese ist bei der schweren infantilen Form wirksamer als bei der milderen late-onset-Form. Wenige andere metabolische Myopathien können durch Substitution von Vitaminen / Kofaktoren wirksam behandelt werden (z. B. multipler Acyl-CoA-Dehydrogenase-Mangel oder Coenzym Q-Mangel). Für die Mehrzahl der metabolischen Myopathien gibt es aber nur symptomatische Therapieoptionen, die zur Verminderung der Belastungsintoleranz und zur Vermeidung von Rhabdomyolyseattacken beitragen können. Dazu gehören diätetische Empfehlungen.

Abstract

Hereditary metabolic myopathies are caused by a shortage of energy production in muscle due to enzyme defects in glycogen / glucose metabolism, lipid metabolism or the respiratory chain. Enzyme replacement therapy is available for alpha-glucosidase deficiency (Pompe disease). This treatment is more effective in classical severe infantile Pompe disease than in late-onset alpha-glucosidase deficiency. A few other metabolic myopathies can be treated successfully with supplementation of vitamins / cofactors (e. g., multiple acyl-CoA dehydrogenase deficiency or coenzyme Q deficiency). For the majority of metabolic myopathies, however, there are only symptomatic treatment options that can contribute to decrease exercise intolerance or to avoid attacks of rhabdomyolysis. These options include dietary regimes.

Schlüsselwörter

metabolische Myopathien - Therapie - Enzymersatztherapie - diätetische Empfehlungen

Keywords

metabolic myopathies - treatment - enzyme replacement therapy - dietary regimes

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