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Abnormalities of cholesterol metabolism in autism spectrum disorders
Open accessAbstract
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. © 2006 Wiley‐Liss, Inc.
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“Findings of lipid abnormalities have been inconsistent in reported ASD studies [56–59, 64], although this might be partially due to varying dietary intake in countries where the studies were performed.”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [56]
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Cites
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
Kelley, R. I. (1995) · Clinica Chimica Acta · doi:10.1016/0009-8981(95)06038-4 · Cited by 234
Self-citationI NBORN E RRORS OF S TEROL B IOSYNTHESIS
Kelley, R. I., & Herman, G. E. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.299 · Cited by 168
Self-citationEtiology of Autism: Genetic Influences
Folstein, S. E., & Piven, J. (1991) · PEDIATRICS · doi:10.1542/peds.87.5.767 · Cited by 147
Borderline normal intelligence in the Smith‐Lemli‐Opitz (RSH) syndrome
Lowry, R. B., Yong, S., & Opitz, J. M. (1980) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320050205 · Cited by 99
Crespo, F. R. (2006) · Springer eBooks · doi:10.1007/3-540-29623-9_8735 · Cited by 78
Determination of serum levels of unesterified lanosterol by isotope dilution-mass spectrometry
Lund, E. G., Ölund, J., & Björkhem, I. (1990) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.1080/00365519009091065 · Cited by 67
Determination of serum levels of unesterified lathosterol by isotope dilution-mass spectrometry
Lund, E., Sisfontes, L., Reihner, E., & Bjorkhem, I. (1989) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365518909105417 · Cited by 62
Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2
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- Kelley RI, 2000, The metabolic and molecular basis of inherited disease‐ eighth edition, 6183
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Watve, M. (2012) · Springer eBooks · doi:10.1007/978-1-4614-4409-1_15
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Hoffmann, L. V., Silva, E. D. S., Castro, K. S., Roman, L., Costa, L. P., Luçardo, J. D. C., Roman, E., VAUCHER, R. A., Giongo, J. L., Cruz, P. H. F. D., et al. (2025) · British Journal Of Nutrition · doi:10.1017/s0007114525106235
Chen, W., Chen, Z., Nepal, C., Pan, X., Shi, W.-X., Li, Y., Xiao, D., Jones, W., Moos, M., Dong, Y., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.19.729385
Vellingiri, B., Kinoshita, M., Elangovan, A., Dahiya, B., Kumar, N., Uvarajan, D., Ohara, H., Durairajan, S. S. K., Siama, Z., Narayanasamy, A., et al. (2026) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2026.107087
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Metadata
- Authors
- Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K., Aneja, A., Kratz, L., & Kelley, R. I.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Tierney, Elaine
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2006-07-27
- Volume
- 141B
- Issue
- 6
- Pages
- 666-668
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- PMC
- PMC2553243
- OpenAlex
- W2162037295
- Cited by
- 163
- References
- 10
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 8 · 2023: 6 · 2022: 6 · 2021: 14 · 2020: 11 · 2019: 8 · 2018: 7 · 2017: 7 · 2016: 9 · 2015: 6 · 2014: 14 · 2013: 17 · 2012: 10
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (n01mh080011-005)
- National Institute of Mental Health (U54MH066417, 154MH066417, MH 64547, R01MH064547)
- National Institute on Drug Abuse (N01 MH080011)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD24061, P30HD024061)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- autism spectrum disorder, cholesterol metabolism, Smith-Lemli-Opitz syndrome, cholesterol biosynthesis, hypocholesterolemia, sterol homeostasis
- MeSH terms
- Autistic Disorder, Child, Cholesterol, Humans, Gas Chromatography-Mass Spectrometry
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