[Organic aciduria: diagnosis in high-risk Brazilian patients]
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.
Wajner
M
M
Hospital de Clínicas de Porto Alegre (HCPA), RS, Brazil.
Barschak
A G
AG
Luft
A P
AP
Pires
R
R
Grillo
E
E
Lohr
A
A
Funayama
C
C
Sanseverino
M T
MT
Giugliani
R
R
Vargas
C R
CR