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