Zusammenfassung
Propionazidämie (PA; OMIM #606054) und Methylmalonazidurie (MMA; OMIM #251000, #607481, #607568) – Prävalenz kumulativ etwa 1:50.000 – sind Organoazidopathien. Ihnen liegen autosomal-rezessiv erbliche Störungen im Propionatabbau zugrunde. Bei der PA besteht eine Defizienz des biotinabhängigen Enzyms Propionyl-CoA-Carboxylase (PCC), bei der MMA eine Defizienz des Vitamin-B12-abhängigen Enzyms Methylmalonyl-CoA-Mutase (MCM). Bei beiden Krankheiten akkumulieren Propionyl-CoA und Propionatmetaboliten, bei der MMA zusätzlich Methylmalonyl-CoA und Methylmalonsäure. In hohen Konzentrationen bewirken diese Substanzen akute und chronische Organschäden.
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Grünewald, S., Murphy, E. (2014). Propionazidämie (PA) und Methylmalonazidurie (MMA). In: vom Dahl, S., Lammert, F., Ullrich, K., Wendel, U. (eds) Angeborene Stoffwechselkrankheiten bei Erwachsenen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-45188-1_33
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DOI: https://doi.org/10.1007/978-3-642-45188-1_33
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