Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

@article{Zwickler2008DiagnosticWA,
  title={Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres},
  author={Tamaris Zwickler and Martin Lindner and Halil Ibrahim Aydin and Matthias R Baumgartner and Olaf A F Bodamer and Alberto B. Burlina and Anibh Martin Das and J. B. C. deKlerk and G{\"u}lden Fatma G{\"o}kçay and Stephanie Gr{\"u}newald and Nathalie Guffon and Esther M Maier and Eva Morava and Shanhai Geb and Bernd C. Schwahn and John H. Walter and Udo Wendel and Frits A. Wijburg and Edith M{\"u}ller and Stefan Koelker and Friederike Hoerster},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={361-367}
}
The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke. The understanding of this disease is hampered by a huge variation in the management of these patients. The major aim of this study was to evaluate the current practice in different European metabolic centres. A standardized questionnaire was sent to 20 metabolic centres asking for standard procedures for confirmation… CONTINUE READING