Detection of organic acidemias in Brazil.
BACKGROUND
Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids) accumulate in tissues and physiologic fluids of affected individuals. They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present acute symptoms in early life. Metabolic acidosis and neurologic symptoms are the most common signs.


METHODS
Urine specimens obtained from 1,926 children from January 1994 to July 2001 were used in analyses. Venous blood specimens were also collected from some patients. Samples were initially submitted to screening tests for detection of inborn errors of metabolism. Identification and semi-quantitation of organic acids in urine were performed by gas chromatography or gas chromatography coupled to mass spectrometry using capillary column (DB-5) and flame ionization detection.


RESULTS
Ninety three (4.8%) cases of organic acidemias were diagnosed among 1,926 patients investigated from January 1994 to July 2001. Prompt therapy was instituted after diagnosis in a considerable number of patients and resulted in rapid improvement in their symptomatology, distinct from our previous cases diagnosed abroad where patients representing index cases died before any measure could be taken.


CONCLUSIONS
Results demonstrate the importance of diagnosing organic acidurias in loco in developing countries despite implied extra costs.
Wajner
Moaçir
M
Serviço de Genética Médica, Hospital de Clínicas, Porto Alegre, RS, 90.035-003, Brazil. mwajner@ufrgs.br
Raymond
Kimiyo
K
Barschak
Alethéa
A
Luft
Ana Paula
AP
Ferreira
Gustavo
G
Domingues
Gislane
G
Chiochetta
Marina
M
Sirtori
Lisana
L
Goulart
Laureci
L
Pulrolnik
Vânia
V
Pires
Ricardo
R
Grillo
Eugênio
E
Lohr
Alfredo
A
Funayama
Carolina
C
Sanseverino
Maria Teresa
MT
Longuercio-Leite
Júlio César
JC
Coelho
Janice C
JC
Giugliani
Roberto
R
Regla-Vargas
Carmen
C
D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000652:urine*; D012307:Risk Factors