Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening

Laura A Tseng^{1

2}, Udo F H Engelke³, Marleen C D G Huigen³, Leo A J Kluijtmans³, Charlotte A Haaxma⁴, David A Koolen⁵, Levinus A Bok⁶, Jason N Wright⁷, Sidney M Gospe^{8

9}, Mirian C H Janssen¹⁰, Clara D M van Karnebeek^{1

2

11}, Karlien L M Coene^{2

3}

Affiliations

¹ Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
² United for Metabolic Diseases, Amsterdam, The Netherlands.
³ Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
⁵ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
⁶ Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands.
⁷ Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
⁸ Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
⁹ Department of Pediatrics, Duke University, Durham, NC, USA.
¹⁰ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
¹¹ Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.

Laura A Tseng et al. Clin Chem. 2022.

. 2022 May 18;68(5):732-735.

doi: 10.1093/clinchem/hvab276.

¹ Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
² United for Metabolic Diseases, Amsterdam, The Netherlands.
³ Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
⁵ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
⁶ Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands.
⁷ Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
⁸ Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
⁹ Department of Pediatrics, Duke University, Durham, NC, USA.
¹⁰ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
¹¹ Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.

No abstract available

Keywords: biomarkers; inherited metabolic disorders; pyridoxine dependent epilepsy; untargeted metabolomics.

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