The Role of Lipidomics in Autism Spectrum Disorder

Mol Diagn Ther. 2020 Feb;24(1):31-48. doi: 10.1007/s40291-019-00430-0.


Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome commonly diagnosed in early childhood; it is usually characterized by impairment in reciprocal communication and speech, repetitive behaviors, and social withdrawal with loss in communication skills. Its development may be affected by a variety of environmental and genetic factors. Trained physicians diagnose and evaluate the severity of ASD based on clinical evaluations of observed behaviors. As such, this approach is inevitably dependent on the expertise and subjective assessment of those administering the clinical evaluations. There is a need to identify objective biological markers associated with diagnosis or clinical severity of the disorder. Several important issues and concerns exist regarding the diagnostic competence of the many abnormal plasma metabolites produced in the different biochemical pathways evaluated in individuals with ASD. The search for high-performing bio-analytes to diagnose and follow-up ASD development is still a major target in medicine. Dysregulation in the oxidative stress response and proinflammatory processes are major etiological causes of ASD pathogenesis. Furthermore, dicarboxylic acid metabolites, cholesterol-related metabolites, phospholipid-related metabolites, and lipid transporters and mediators are impaired in different pathological conditions that have a role in the ASD etiology. A mechanism may exist by which pro-oxidant environmental stressors and abnormal metabolites regulate clinical manifestations and development of ASD.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / etiology
  • Autism Spectrum Disorder / metabolism*
  • Biomarkers*
  • Carrier Proteins / metabolism
  • Child
  • Child, Preschool
  • Disease Susceptibility
  • Humans
  • Lipid Metabolism
  • Lipidomics* / methods
  • Membrane Lipids / metabolism
  • Oxidative Stress
  • Phospholipids
  • Prognosis
  • Sphingolipids


  • Biomarkers
  • Carrier Proteins
  • Membrane Lipids
  • Phospholipids
  • Sphingolipids
  • lipid transfer protein