Autism and mitochondrial disease

Dev Disabil Res Rev. 2010;16(2):144-53. doi: 10.1002/ddrr.112.


Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears to be increased in incidence and prevalence. Similarly, mitochondrial disorders are increasingly recognized. Although overlap between these disorders is to be expected, accumulating clinical, genetic, and biochemical evidence suggests that mitochondrial dysfunction in ASD is more commonly seen than expected. Some patients with ASD phenotypes clearly have genetic-based primary mitochondrial disease. This review will examine the data linking autism and mitochondria.

Publication types

  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / diagnosis*
  • Child Development Disorders, Pervasive / epidemiology
  • Child Development Disorders, Pervasive / genetics
  • Child, Preschool
  • Chromosome Aberrations
  • Comorbidity
  • Cross-Sectional Studies
  • DNA, Mitochondrial / genetics
  • Diagnostic and Statistical Manual of Mental Disorders
  • Genotype
  • Humans
  • Lactic Acid / blood
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / epidemiology
  • Mitochondrial Diseases / genetics
  • Oxidative Phosphorylation
  • Phenotype


  • DNA, Mitochondrial
  • Lactic Acid