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Autism pp 69–79Cite as

Cholesterol Deficit in Autism: Insights from Smith–Lemli–Opitz Syndrome

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Part of the book series: Current Clinical Neurology ((CCNEU))

Abstract

Cholesterol is necessary for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development. It also modulates the oxytocin receptor, as well as ligand activity and G-protein coupling of the serotonin-1A receptor. A deficit of cholesterol may perturb these biological processes and thereby contribute to autism spectrum disorders (ASD), as observed in Smith–Lemli–Opitz syndrome (SLOS) and some subjects with ASD in the autism genetic resource exchange (AGRE). A clinical diagnosis of SLOS can be confirmed by laboratory testing and is partially treatable by cholesterol supplementation. Thus, the threshold should be low for obtaining a blood sterol analysis for the biochemical diagnosis of SLOS.

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Authors and Affiliations

  1. Department of Psychiatry, Kennedy Krieger Institute, 3901 Greenspring Ave., Baltimore, MD 21211, USA

    Elaine Tierney

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  1. Alka Aneja
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  2. Elaine Tierney
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© 2008 Humana Press, a part of Springer Science+Business Media, LLC

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Aneja, A., Tierney, E. (2008). Cholesterol Deficit in Autism: Insights from Smith–Lemli–Opitz Syndrome. In: Autism. Current Clinical Neurology. Humana Press. https://doi.org/10.1007/978-1-60327-489-0_3

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  • DOI: https://doi.org/10.1007/978-1-60327-489-0_3

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-60327-488-3

  • Online ISBN: 978-1-60327-489-0

  • eBook Packages: MedicineMedicine (R0)

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