Your browser doesn't support javascript.
loading
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner, E M Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M; Freisinger, Peter; Grünert, Sarah C; Krämer, Johannes; Baumgartner, Matthias R; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Näke, Andrea; Hoffmann, Georg F; Mühlhausen, Chris; Walter, Magdalena; Garbade, Sven F; Maier, Esther M; Kölker, Stefan; Boy, Nikolas.
Afiliación
  • Märtner EMC; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Thimm E; Division of Experimental Paediatrics and Metabolism, Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Guder P; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Schiergens KA; Dr. Von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
  • Rutsch F; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.
  • Roloff S; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany.
  • Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany.
  • Das AM; Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.
  • Freisinger P; Children's Hospital Reutlingen, Reutlingen, Germany.
  • Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Krämer J; Department of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany.
  • Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
  • Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.
  • Haase C; Department of Pediatrics, Helios Klinikum, Erfurt, Germany.
  • Dieckmann A; Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
  • Lindner M; Division of Paediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany.
  • Näke A; Children's Hospital Carl Gustav Carus, Technical University, Dresden, Germany.
  • Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
  • Walter M; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Garbade SF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Maier EM; Dr. Von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
  • Kölker S; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Boy N; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. nikolas.boy@med.uni-heidelberg.de.
Sci Rep ; 11(1): 19300, 2021 09 29.
Article en En | MEDLINE | ID: mdl-34588557
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi-centre study includes 107 individuals with confirmed GA1 identified by newborn screening between 1999 and 2020 in Germany. Clinical status, development, and IQ were assessed using standardized tests. Impact of interventional and non-interventional parameters on cognitive outcome was evaluated. The majority of tested individuals (n = 72) showed stable IQ values with age (n = 56 with IQ test; median test age 11 years) but a significantly lower performance (median [IQR] IQ 87 [78-98]) than in general population, particularly in individuals with a biochemical high excreter phenotype (84 [75-96]) compared to the low excreter group (98 [92-105]; p = 0.0164). For all patients, IQ results were homogenous on subscale levels. Sex, clinical motor phenotype and quality of metabolic treatment had no impact on cognitive functions. Long-term neurologic outcome in GA1 involves both motor and cognitive functions. The biochemical high excreter phenotype is the major risk factor for cognitive impairment while cognitive functions do not appear to be impacted by current therapy and striatal damage. These findings implicate the necessity of new treatment concepts.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Desarrollo Infantil / Glutaril-CoA Deshidrogenasa / Disfunción Cognitiva / Errores Innatos del Metabolismo de los Aminoácidos / Glutaratos Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Desarrollo Infantil / Glutaril-CoA Deshidrogenasa / Disfunción Cognitiva / Errores Innatos del Metabolismo de los Aminoácidos / Glutaratos Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido