title: Abnormalities of cholesterol metabolism in autism spectrum disorders.
abstract: 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.
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland 21211, USA. Tierney@kennedykrieger.org
authors.forename: Elaine
authors.initials: E
authors.lastname: Tierney
authors.forename: Irena
authors.initials: I
authors.lastname: Bukelis
authors.forename: Richard E
authors.initials: RE
authors.lastname: Thompson
authors.forename: Khalid
authors.initials: K
authors.lastname: Ahmed
authors.forename: Alka
authors.initials: A
authors.lastname: Aneja
authors.forename: Lisa
authors.initials: L
authors.lastname: Kratz
authors.forename: Richard I
authors.initials: RI
authors.lastname: Kelley
mesh_terms: D001321:Autistic Disorder / Q000378:metabolism*; D002648:Child; D002784:Cholesterol / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans
chemical_list: D002784:Cholesterol