TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Grünert, Sarah C.
A1  - Müllerleile, Stephanie
A1  - Silva, Linda de
A1  - Barth, Michael
A1  - Walter, Melanie
A1  - Walter, Kerstin
A1  - Meissner, Thomas
A1  - Lindner, Martin
A1  - Ensenauer, Regina
A1  - Santer, René
A1  - Bodamer, Olaf A.
A1  - Baumgartner, Matthias R.
A1  - Brunner-Krainz, Michaela
A1  - Karall, Daniela
A1  - Haase, Claudia
A1  - Knerr, Ina
A1  - Marquardt, Thorsten
A1  - Hennermann, Julia B.
A1  - Steinfeld, Robert
A1  - Beblo, Skadi
A1  - Koch, Hans-Georg
A1  - Konstantopoulou, Vassiliki
A1  - Scholl-Bürgi, Sabine
A1  - van Teeffelen-Heithoff, Agnes
A1  - Suormala, Terttu
A1  - Sperl, Wolfgang
A1  - Kraus, Jan P.
A1  - Superti-Furga, Andrea
A1  - Schwab, Karl Otfried
A1  - Sass, Jörn Oliver
T1  - Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
JF  - Orphanet Journal of Rare Diseases
N2  - 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.
SN  - 1750-1172
SS  - 1750-1172
U6  - https://doi.org/10.1186/1750-1172-8-6
DO  - https://doi.org/10.1186/1750-1172-8-6
PM  - 23305374
N1  - © 2013 Grünert et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.
VL  - 8
SP  - 6
PB  - BioMed Central
ER  -