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. 2001 Sep-Oct;77(5):401-6.
doi: 10.2223/jped.282.

[Organic aciduria: diagnosis in high-risk Brazilian patients]

[Article in Portuguese]
M Wajner  1 , A G Barschak, A P Luft, R Pires, E Grillo, A Lohr, C Funayama, M T Sanseverino, R Giugliani, C R Vargas
Affiliations

[Organic aciduria: diagnosis in high-risk Brazilian patients]

[Article in Portuguese]
M Wajner et al. J Pediatr (Rio J). 2001 Sep-Oct.

Abstract

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.

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