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patients, article, propionic, google, scholar, data, life, acidemia, metabolic, age, study, pubmed, sds, clinical, years, cas, median, outcome, germany, height, growth, reported, quality, development, children, pediatr, results, complications, body, parents, common, protein, kinder, sass, performed, families, questionnaire, walter, authors, neurologic, problems, healthy, table, family, months, findings, information, screening, bone, longterm,

Topics {✒️}

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Questions {❓}

• Brosch S, Rauffeisen A, Baur M, Michels L, Trefz FK, Pfister M: Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?

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         headline:Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
         description: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. 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. 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. 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.
         datePublished:2013-01-10T00:00:00Z
         dateModified:2013-01-10T00:00:00Z
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            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
            Medicine/Public Health
            general
            Pharmacology/Toxicology
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ScholarlyArticle:
      headline:Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
      description: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. 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. 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. 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.
      datePublished:2013-01-10T00:00:00Z
      dateModified:2013-01-10T00:00:00Z
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      pageEnd:9
      license:https://creativecommons.org/licenses/by/2.0
      sameAs:https://doi.org/10.1186/1750-1172-8-6
      keywords:
         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
         Medicine/Public Health
         general
         Pharmacology/Toxicology
         Human Genetics
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            name:Universitätsklinikum Freiburg
            address:
               name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
               type:PostalAddress
            type:Organization
            name:University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV)
            address:
               name:University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
               type:PostalAddress
            type:Organization
      name:Karl Otfried Schwab
      affiliation:
            name:Universitätsklinikum Freiburg
            address:
               name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
               type:PostalAddress
            type:Organization
      name:Jörn Oliver Sass
      affiliation:
            name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg
            address:
               name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
               type:PostalAddress
            type:Organization
            name:Universitäts-Kinderspital Zürich
            address:
               name:Klinische Chemie & Biochemie, Universitäts-Kinderspital Zürich, Zürich, Switzerland
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf, Düsseldorf, Germany
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany
      name:Klinikum der Universität München, Ludwig-Maximilians-Universität München, Munich, Germany
      name:Kinderklinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
      name:Allgemeine Pädiatrie, AKH, Medizinische Universität Wien, Wien, Austria
      name:Department of Human Genetics, Division of Clinical and Translational Genetics and Genomics; Miller School of Medicine, University of Miami, Florida, USA
      name:Stoffwechsel und Molekulare Pädiatrie, Universitäts-Kinderspital Zürich, Zürich, Switzerland
      name:Universitätsklinikum für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
      name:Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Innsbruck, Innsbruck, Austria
      name:Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Jena, Jena, Germany
      name:Helios Klinikum Erfurt, Klinik für Kinder und Jugendmedizin, Erfurt, Germany
      name:National Centre for Inherited Metabolic Disorders, Children’s University Hospital Dublin, Dublin, Ireland
      name:Allgemeine Pädiatrie, Universitätskinderklinik Münster, Münster, Germany
      name:Klinik für Pädiatrie m. S. Endokrinologie, Gastroenterologie und Stoffwechselmedizin, Charité Universitätsmedizin Berlin, Berlin, Germany
      name:Kinderklinik, Georg-August-Universität Göttingen, Göttingen, Germany
      name:Universitätsklinikum für Kinder und Jugendliche, Leipzig, Germany
      name:Klinik für Kinder- und Jugendmedizin, Braunschweig, Germany
      name:Allgemeine Pädiatrie, AKH, Medizinische Universität Wien, Wien, Austria
      name:Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Innsbruck, Innsbruck, Austria
      name:Allgemeine Pädiatrie, Universitätskinderklinik Münster, Münster, Germany
      name:Universitäts-Kinderspital Basel, Basel, Switzerland
      name:Paracelsus Medizinische Privatuniversität, Universitätsklinikum für Kinder- und Jugendheilkunde, Salzburg, Austria
      name:Department of Pediatrics, University of Colorado, Aurora, USA
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
      name:Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
      name:Klinische Chemie & Biochemie, Universitäts-Kinderspital Zürich, Zürich, Switzerland

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