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

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• 作者：Sarah C Grünert (1)
  Stephanie Müllerleile (2)
  Linda De Silva (2)
  Michael Barth (1)
  Melanie Walter (2)
  Kerstin Walter (1)
  Thomas Meissner (5)
  Martin Lindner (6)
  Regina Ensenauer (7)
  René Santer (8)
  Olaf A Bodamer (10) (9)
  Matthias R Baumgartner (11)
  Michaela Brunner-Krainz (12)
  Daniela Karall (13)
  Claudia Haase (14) (15)
  Ina Knerr (16)
  Thorsten Marquardt (17)
  Julia B Hennermann (18)
  Robert Steinfeld (19)
  Skadi Beblo (20)
  Hans-Georg Koch (21)
  Vassiliki Konstantopoulou (9)
  Sabine Scholl-Bürgi (13)
  Agnes van Teeffelen-Heithoff (17)
  Terttu Suormala (22)
  Wolfgang Sperl (23)
  Jan P Kraus (24)
  Andrea Superti-Furga (1) (4)
  Karl Otfried Schwab (1)
  J?rn Oliver Sass (2) (3)
  
• 关键词：Propionic acidemia ; Branched ; chain amino acids ; Outcome ; Quality of life ; Clinical course ; Physical development ; Neurocognitive development ; IQ ; Long ; term complications ; Propionyl ; coenzyme A carboxylase deficiency
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：8
• 期：1
• 全文大小：755KB
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• 作者单位：Sarah C Grünert (1)
  Stephanie Müllerleile (2)
  Linda De Silva (2)
  Michael Barth (1)
  Melanie Walter (2)
  Kerstin Walter (1)
  Thomas Meissner (5)
  Martin Lindner (6)
  Regina Ensenauer (7)
  René Santer (8)
  Olaf A Bodamer (10) (9)
  Matthias R Baumgartner (11)
  Michaela Brunner-Krainz (12)
  Daniela Karall (13)
  Claudia Haase (14) (15)
  Ina Knerr (16)
  Thorsten Marquardt (17)
  Julia B Hennermann (18)
  Robert Steinfeld (19)
  Skadi Beblo (20)
  Hans-Georg Koch (21)
  Vassiliki Konstantopoulou (9)
  Sabine Scholl-Bürgi (13)
  Agnes van Teeffelen-Heithoff (17)
  Terttu Suormala (22)
  Wolfgang Sperl (23)
  Jan P Kraus (24)
  Andrea Superti-Furga (1) (4)
  Karl Otfried Schwab (1)
  J?rn Oliver Sass (2) (3)
  
  1. Zentrum für Kinder- und Jugendmedizin, Universit?tsklinikum Freiburg, Freiburg, Germany
  2. Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universit?tsklinikum Freiburg, Freiburg, Germany
  5. Klinik für Allgemeine P?diatrie, Neonatologie und Kinderkardiologie, Universit?tsklinikum Düsseldorf, Düsseldorf, Germany
  6. Zentrum für Kinder- und Jugendmedizin, Universit?tsklinikum Heidelberg, Heidelberg, Germany
  7. Klinikum der Universit?t München, Ludwig-Maximilians-Universit?t München, Munich, Germany
  8. Kinderklinik, Universit?tsklinikum Hamburg-Eppendorf, Hamburg, Germany
  10. Department of Human Genetics, Division of Clinical and Translational Genetics and Genomics; Miller School of Medicine, University of Miami, Florida, USA
  9. Allgemeine P?diatrie, AKH, Medizinische Universit?t Wien, Wien, Austria
  11. Stoffwechsel und Molekulare P?diatrie, Universit?ts-Kinderspital Zürich, Zürich, Switzerland
  12. Universit?tsklinikum für Kinder- und Jugendheilkunde, Medizinische Universit?t Graz, Graz, Austria
  13. Universit?tsklinik für Kinder- und Jugendheilkunde, Medizinische Universit?t Innsbruck, Innsbruck, Austria
  14. Klinik für Kinder- und Jugendmedizin, Universit?tsklinikum Jena, Jena, Germany
  15. 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 P?diatrie, Universit?tskinderklinik Münster, Münster, Germany
  18. Klinik für P?diatrie m. S. Endokrinologie, Gastroenterologie und Stoffwechselmedizin, Charité Universit?tsmedizin Berlin, Berlin, Germany
  19. Kinderklinik, Georg-August-Universit?t G?ttingen, G?ttingen, Germany
  20. Universit?tsklinikum für Kinder und Jugendliche, Leipzig, Germany
  21. Klinik für Kinder- und Jugendmedizin, Braunschweig, Germany
  22. Universit?ts-Kinderspital Basel, Basel, Switzerland
  23. Paracelsus Medizinische Privatuniversit?t, Universit?tsklinikum für Kinder- und Jugendheilkunde, Salzburg, Austria
  24. Department of Pediatrics, University of Colorado, Aurora, USA
  4. University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
  3. Klinische Chemie & Biochemie, Universit?ts-Kinderspital Zürich, Steinwiesstrasse 75, 8032, Zürich, Switzerland
  

文摘

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.