Propionic acidemia: Neonatal versus selective metabolic screening

S. C. Grünert, S. Müllerleile, L. De Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. BebloH. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. Van Teeffelen-Heithoff, T. Suormala, W. Sperl, J. P. Kraus, A. Superti-Furga, K. O. Schwab, J. O. Sass

Research output: Contribution to journalArticle

40 Scopus citations


Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse. Study design Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selectivemetabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers.

Original languageEnglish (US)
Pages (from-to)41-49
Number of pages9
JournalJournal of Inherited Metabolic Disease
Issue number1
StatePublished - Jan 1 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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