RESUMEN
In order to ascertain whether autistic children display characteristic metabolic signatures that are of diagnostic value, plasma amino acid analyses were carried out on a cohort of 138 autistic children and 138 normal controls using reverse-phase HPLC. Pre-column derivatization of amino acids with phenyl isothiocyanate forms phenyl thio-carbamate derivates that have a λmax of 254 nm, enabling their detection using photodiode array. Autistic children showed elevated levels of glutamic acid (120 ± 89 vs. 83 ± 35 mmol/L) and asparagine (85 ± 37 vs. 47 ± 19 mmol/L); lower levels of phenylalanine (45 ± 20 vs. 59 ± 18 mmol/L), tryptophan (24 ± 11 vs. 41 ± 16 mmol/L), methionine (22 ± 9 vs. 28 ± 9 mmol/L) and histidine (45 ± 21 vs. 58 ± 15 mmol/L). A low molar ratio of (tryptophan/large neutral amino acids) × 100 was observed in autism (5.4 vs 9.2), indicating lesser availability of tryptophan for neurotransmitter serotonin synthesis. To conclude, elevated levels of excitatory amino acids (glutamate and asparagine), decreased essential amino acids (phenylalanine, tryptophan and methionine) and decreased precursors of neurotransmitters (tyrosine and tryptophan) are the distinct characteristics of plasma amino acid profile of autistic children. Thus, such metabolic signatures might be useful tools for early diagnosis of autism.