Retrospective analysis of urine organic acids chromatograms for the identification of vanillactic and vanillylmandelic acids in a sample of Colombia population

During the last decade, our laboratory has consolidated as a national reference center for the diagnosis of several small molecule IEM by using GC/MS, and about 350 samples per year are sent to our center for the analysis of urine organic acids. According to our results (ref) and reports of the National Public Health Surveillance System (SIVIGILA), small molecules disorders could be considered as the most frequent IEM group in Colombian population. Nevertheless, no AADC deficiency patients has been reported neither by our laboratory nor by SIVIGILA, which could be associated to the lack of appropriate diagnosis methods available in our country. In this sense, in this project we will implement the determination of urine VLA/VMA ratio as a diagnostic tool for AADC deficiency in a Colombian IEM diagnosis laboratory. We expect that the local availability of this diagnostic tool will facilitate and promote the diagnosis of AADC deficiency patients in Colombia, which could be underdiagnosis as observed with other IEM and rare diseases.