EVALUATION OF URINE ORGANIC ACIDS CHROMATOGRAMS FOR THE IDENTIFICATION OF VANILLACTIC AND VANILLYLMANDELIC ACIDS IN HEALTHY AND HIGH RISK POPULATION BETWEEEN 0 AND 50 OF AGE DURING THE PERIOD 2017 ¿ 2022

AADC deficiency is a neurological degenerative disease characterized by a highly variable clinical spectrum. Recently, it has been stablished a protocol for AADC deficiency treatment including pharmacological approximations for improving neurotransmitter function as well as symptomatic treatments. The application of such protocol highly relies on the possibility to confirm the diagnosis in this patients in order to optimize the therapeutical efforts and avoid potentially harmful interventions. 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, summed to the difficulty of approaching clinical diagnosis of such a low-frequency entity with non-especific and highly variable symptoms.