Jornal de Pediatria
Print version ISSN 0021-7557
WAJNER, Moacir et al. Organic aciduria: diagnosis in high-risk Brazilian patients. J. Pediatr. (Rio J.) [online]. 2001, vol.77, n.5, pp. 401-406. ISSN 0021-7557. http://dx.doi.org/10.1590/S0021-75572001000500011.
OBJECTIVE: to determine the prevalence of organic acidurias in high-risk Brazilian patients. METHODS: laboratory techniques for the detection and quantification of organic acids by gas chromatography/mass spectrometry were implemented in Porto Alegre, Brazil. We investigated 1,480 patients suspected of organic aciduria between January 1994 and June 2000. RESULTS: seventy three (4.9%) cases of organic acidemias (acidurias) were diagnosed among the tested individuals. In most of these patients, prompt therapy resulted in rapid symptom improvement; these results are completely different from our previous cases diagnosed in other laboratories in Europe and the United States, where several patients died before any measures could be taken. CONCLUSIONS: these results demonstrate the importance of diagnosing organic acidurias in loco even in developing countries, in spite of the extra costs involved.
Keywords : organic acidurias; organic acids; inborn errors of metabolism.