Yield of additional metabolic studies in neurodevelopmental disorders

Hannelie M Engbers, Ruud Berger, Peter van Hasselt, Tom de Koning, Monique G M de Sain-van der Velden, Hester Y Kroes, Gepke Visser

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The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders.

Original languageEnglish
Pages (from-to)212-7
Number of pages6
JournalAnnals of Neurology
Issue number2
Publication statusPublished - Aug-2008
Externally publishedYes


  • Adolescent
  • Brain Diseases, Metabolic
  • Child
  • Child, Preschool
  • Developmental Disabilities
  • Female
  • Humans
  • Infant
  • Intellectual Disability
  • Learning Disorders
  • Male
  • Mental Disorders
  • Metabolic Diseases
  • Comparative Study
  • Journal Article
  • Research Support, Non-U.S. Gov't

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