Profiles of Amino Acids and Biogenic Amines in the Plasma of Cri-du-Chat Patients from Brazil

The publication describes a metabolomic analysis with a chemometric approach, that allowed description of the metabolic profile of Cri Du Chat Syndrome (CDCS) as compared to normal subjects.
Methods In the present work, UHPLC/MS was employed to analyze blood samples withdrawn from CDCS carriers (n=18) and normal parental subjects (n=18), and a representative CDCS profile was constructed from 33 targeted amino acids and biogenic amines. The result showed, an increase of methionine sulfoxide was of particular concern with respect to CDCS redox balance. Increased serotonin, methionine sulfoxide, and Asp levels, and a little lower Orn, citrulline, Leu, Val, Ile, Asn, Gln, Trp, Thr, His, Phe, Met, and creatinine levels were found in the plasma of CDCS patients. Nitrotyrosine and Trp did not differ in normal and CDCS individuals.