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

Orphanet Journal of Rare Diseases

Jörn Oliver Sass⁸  Karl Otfried Schwab^1,16  Andrea Superti-Furga^1,12  Jan P Kraus²  Wolfgang Sperl⁴  Terttu Suormala^1,14  Agnes van Teeffelen-Heithoff⁷  Sabine Scholl-Bürgi^1,19  Vassiliki Konstantopoulou³  Hans-Georg Koch⁵  Skadi Beblo^1,15  Robert Steinfeld⁶  Julia B Hennermann^1,17  Thorsten Marquardt⁷  Ina Knerr^2,20  Claudia Haase⁹  Daniela Karall^1,19  Michaela Brunner-Krainz^1,13  Matthias R Baumgartner¹  Olaf A Bodamer³  René Santer^2,21  Regina Ensenauer^1,11  Martin Lindner^2,22  Thomas Meissner^1,18  Kerstin Walter^1,16  Melanie Walter^1,10  Michael Barth^1,16  Linda De Silva^1,10  Stephanie Müllerleile^1,10  Sarah C Grünert^1,16 

[1] Stoffwechsel und Molekulare Pädiatrie, Universitäts-Kinderspital Zürich, Zürich, Switzerland;Department of Pediatrics, University of Colorado, Aurora, USA;Allgemeine Pädiatrie, AKH, Medizinische Universität Wien, Wien, Austria;Paracelsus Medizinische Privatuniversität, Universitätsklinikum für Kinder- und Jugendheilkunde, Salzburg, Austria;Klinik für Kinder- und Jugendmedizin, Braunschweig, Germany;Kinderklinik, Georg-August-Universität Göttingen, Göttingen, Germany;Allgemeine Pädiatrie, Universitätskinderklinik Münster, Münster, Germany;Klinische Chemie & Biochemie, Universitäts-Kinderspital Zürich, Steinwiesstrasse 75, 8032, Zürich, Switzerland;Present address: Helios Klinikum Erfurt, Klinik für Kinder und Jugendmedizin, Erfurt, Germany;Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany;Klinikum der Universität München, Ludwig-Maximilians-Universität München, Munich, Germany;Present address: University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland;Universitätsklinikum für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria;Universitäts-Kinderspital Basel, Basel, Switzerland;Universitätsklinikum für Kinder und Jugendliche, Leipzig, Germany;Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany;Klinik für Pädiatrie m. S. Endokrinologie, Gastroenterologie und Stoffwechselmedizin, Charité Universitätsmedizin Berlin, Berlin, Germany;Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany;Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Innsbruck, Innsbruck, Austria;National Centre for Inherited Metabolic Disorders, Children’s University Hospital Dublin, Dublin, Ireland;Kinderklinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany;Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany

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

Others  :  864149
DOI  :  10.1186/1750-1172-8-6

 received in 2012-11-13, accepted in 2013-01-07,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Grünert et al.; licensee BioMed Central Ltd.

【 图 表 】

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