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Abstract
Autism spectrum disorders are neurodevelopmental conditions affecting social and communication skills with stereotyped movements. Prevalence of autism has been on an increase in the last two decades according to literature. Research associated some forms of autism spectrum disorders with metabolic disturbances, specifically mitochondrial dysfunction. On studying cases with autism three cases out of eighty displayed a deletion in exon 2 of TMLHE gene, the gene transcribing the first enzyme in carnitine synthesis. With acylcarnitine analysis, 52.5% of the cases displayed elevated total acylcarnitine/ free carnitine ratio, with 20 % of the cases having decreased free carnitine level. Amino acid analysis displayed an elevation of tyrosine, alanine and proline in autistic cases. All of these findings meet criteria of mitochondrial dysfunction in autistic cases