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Clinical Pediatrics, Vol. 43, No. 9, 837-843 (2004)
DOI: 10.1177/000992280404300908

Propionic Acidemia Revisited: A Workshop Report

J. O. Sass

Dr rer nat, Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany

M. Hofmann

Dr med univ, Universitätsklinik für Kinder- und Jugendheilkunde, Paracelsus Medizinische Privatuniversität, Salzburg, Austria

D. Skladal

Dr med univ, Universitätsklinik für Kinder-und Jugendheilkunde, Innsbruck, Austria

E. Mayatepek

Prof Dr med univ, Klinik für Allgemeine Pädiatrie, Zentrum für Kinder-und Jugendmedizin, Heinrich-Heine-Universität Düsseldorf, Germany

B. Schwahn

Dr med univ, Klinik für Allgemeine Pädiatrie, Zentrum für Kinder-und Jugendmedizin, Heinrich-Heine-Universität Düsseldorf, Germany

W. Sperl

Prof Dr med univ, Universitätsklinik für Kinder-und Jugendheilkunde, Paracelsus Medizinische Privatuniversität, Salzburg, Austria

Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study.


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