@article{Gr{\"u}nertM{\"u}llerleileSilvaetal.2013,
  author    = {Gr{\"u}nert, Sarah C. and M{\"u}llerleile, Stephanie and Silva, Linda de and Barth, Michael and Walter, Melanie and Walter, Kerstin and Meissner, Thomas and Lindner, Martin and Ensenauer, Regina and Santer, Ren{\´e} and Bodamer, Olaf A. and Baumgartner, Matthias R. and Brunner-Krainz, Michaela and Karall, Daniela and Haase, Claudia and Knerr, Ina and Marquardt, Thorsten and Hennermann, Julia B. and Steinfeld, Robert and Beblo, Skadi and Koch, Hans-Georg and Konstantopoulou, Vassiliki and Scholl-B{\"u}rgi, Sabine and van Teeffelen-Heithoff, Agnes and Suormala, Terttu and Sperl, Wolfgang and Kraus, Jan P. and Superti-Furga, Andrea and Schwab, Karl Otfried and Sass, J{\"o}rn Oliver},
  title     = {Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients},
  journal   = {Orphanet Journal of Rare Diseases},
  volume    = {8},
  issn      = {1750-1172},
  doi       = {10.1186/1750-1172-8-6},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  year      = {2013},
  abstract  = {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.},
  language  = {en}
}