Abnormalities of cholesterol metabolism in autism spectrum disorders

Elaine Tierney, Irena Bukelis, Richard E. Thompson, Khalid Ahmed, Alka Aneja, Lisa Kratz, Richard Ian Kelley

Research output: Contribution to journalArticlepeer-review

94 Scopus citations


Although Smith-Lemli-Opitz Syndrome (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with autism [Tierney et al., 2001; Am J Med Genet 98:191-200.], the incidence of SLOS and other sterol disorders among individuals with autism spectrum disorders (ASD) is unknown. This study investigated (1) the incidence of biochemically diagnosed SLOS in blood samples from a cohort of subjects with ASD from families in which more than one individual had ASD and (2) the type and incidence of other sterol disorders in the same group. Using gas chromatography/mass spectrometry, cholesterol, and its precursor sterols were quantified in 100 samples from subjects with ASD obtained from the Autism Genetic Resource Exchange (AGRE) specimen repository. Although no sample had sterol levels consistent with SLOS, 19 samples had total cholesterol levels lower than 100 mg/dl, which is below the 5th centile for children over age 2 years. These findings suggest that, in addition to SLOS, there may be other disorders of sterol metabolism or homeostasis associated with ASD.

Original languageEnglish (US)
Pages (from-to)666-668
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number6
StatePublished - Sep 5 2006


  • Asperger disorder
  • Autism Genetic Resource Exchange
  • Hypocholesterolemia
  • Pervasive developmental disorder
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


Dive into the research topics of 'Abnormalities of cholesterol metabolism in autism spectrum disorders'. Together they form a unique fingerprint.

Cite this