SciELO - Scientific Electronic Library Online

 
vol.77 issue5Effects of cisapride and chest physical therapy on the gastroesophageal reflux of wheezing babies based on scintigraphyApplications of videolaparoscopic surgery in children author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Jornal de Pediatria

Print version ISSN 0021-7557

Abstract

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.

        · abstract in Portuguese     · text in Portuguese     · pdf in Portuguese