Research
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
1 Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
2 Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
3 Klinische Chemie & Biochemie, Universitäts-Kinderspital Zürich, Steinwiesstrasse 75, 8032, Zürich, Switzerland
4 Present address: University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
5 Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany
6 Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany
7 Klinikum der Universität München, Ludwig-Maximilians-Universität München, Munich, Germany
8 Kinderklinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
9 Allgemeine Pädiatrie, AKH, Medizinische Universität Wien, Wien, Austria
10 Present address: Department of Human Genetics, Division of Clinical and Translational Genetics and Genomics; Miller School of Medicine, University of Miami, Florida, USA
11 Stoffwechsel und Molekulare Pädiatrie, Universitäts-Kinderspital Zürich, Zürich, Switzerland
12 Universitätsklinikum für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
13 Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Innsbruck, Innsbruck, Austria
14 Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Jena, Jena, Germany
15 Present address: Helios Klinikum Erfurt, Klinik für Kinder und Jugendmedizin, Erfurt, Germany
16 National Centre for Inherited Metabolic Disorders, Children’s University Hospital Dublin, Dublin, Ireland
17 Allgemeine Pädiatrie, Universitätskinderklinik Münster, Münster, Germany
18 Klinik für Pädiatrie m. S. Endokrinologie, Gastroenterologie und Stoffwechselmedizin, Charité Universitätsmedizin Berlin, Berlin, Germany
19 Kinderklinik, Georg-August-Universität Göttingen, Göttingen, Germany
20 Universitätsklinikum für Kinder und Jugendliche, Leipzig, Germany
21 Klinik für Kinder- und Jugendmedizin, Braunschweig, Germany
22 Universitäts-Kinderspital Basel, Basel, Switzerland
23 Paracelsus Medizinische Privatuniversität, Universitätsklinikum für Kinder- und Jugendheilkunde, Salzburg, Austria
24 Department of Pediatrics, University of Colorado, Aurora, USA
Orphanet Journal of Rare Diseases 2013, 8:6 doi:10.1186/1750-1172-8-6
Published: 10 January 2013Abstract
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.
