Propionic acidemia: Clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi BebloHans Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes Van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass

Research output: Contribution to journalArticlepeer-review

80 Scopus citations


Background: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. Study design/methods. Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed. Results: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls. Conclusion: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.

Original languageEnglish (US)
Article number6
JournalOrphanet journal of rare diseases
Issue number1
StatePublished - 2013
Externally publishedYes


  • Branched-chain amino acids
  • Clinical course
  • IQ
  • Long-term complications
  • Neurocognitive development
  • Outcome
  • Physical development
  • Propionic acidemia
  • Propionyl-coenzyme A carboxylase deficiency
  • Quality of life

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)


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