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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Literatur
Kraus JP, Spector E, Venezia S et al (2012) Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis 35:51–63
Dionisi-Vici C, Deodato F, Röschinger W et al (2006) Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. Review. J Inherit Metab Dis 29:383–389
Pena L, Franks J, Chapman KA et al (2012) Natural history of propionic acidemia. Mol Genet Metab 105:5–9
Schreiber J, Chapman KA, Summar ML et al (2012) Neurologic considerations in propionic acidemia. Mol Genet Metab 105:10–15
Martín-Hernández E, Lee PJ, Micciche A et al (2009) Longterm needs of adult patients with organic acidaemias: outcome and prognostic factors. J Inherit Metab Dis 32:523–533
Hörster F, Baumgartner MR, Viardot C et al (2007) Longterm outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62:225–230
Baumgartner D, Scholl-Bürgi S, Sass JO et al (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150:192–197
Mc Guire PJ, Lim-Melia E, Diaz GA et al (2008) Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab 93:22–29
Chapman KA, Summar ML, Enns GM (2012) Propionic acidemia: to liver transplant or not to liver transplant? Pediatr Transplant 16:209–210
Chapman KA, Gropman A, MacLeod E et al (2012) Acute management of propionic acidemia. Mol Genet Metab 105:16–25
Sutton VR, Chapman KA, Gropman AL et al (2012) Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 105:26–33
Van Calcar SC, Harding CO, Davidson SR et al (1992) Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. Am J Med Genet 44:641–646
Langendonk JG, Roos JC, Angus L et al (2012) A series of pregnancies in women with inherited metabolic disease. J Inherit Metab Dis 35:419–424
Wasserstein MP, Gaddipati S, Snyderman SE et al (1999) Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis 22:788–794
Deodato F, Rizzo C, Boenzi S et al (2002) Successful pregnancy in a woman with mut- methylmalonic acidaemia. J Inherit Metab Dis 25:133–134
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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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