title: Detection of organic acidemias in Brazil.
abstract: 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.
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas, Porto Alegre, RS, 90.035-003, Brazil. mwajner@ufrgs.br
authors.forename: Moaçir
authors.initials: M
authors.lastname: Wajner
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Raymond
authors.forename: Alethéa
authors.initials: A
authors.lastname: Barschak
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Luft
authors.forename: Gustavo
authors.initials: G
authors.lastname: Ferreira
authors.forename: Gislane
authors.initials: G
authors.lastname: Domingues
authors.forename: Marina
authors.initials: M
authors.lastname: Chiochetta
authors.forename: Lisana
authors.initials: L
authors.lastname: Sirtori
authors.forename: Laureci
authors.initials: L
authors.lastname: Goulart
authors.forename: Vânia
authors.initials: V
authors.lastname: Pulrolnik
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pires
authors.forename: Eugênio
authors.initials: E
authors.lastname: Grillo
authors.forename: Alfredo
authors.initials: A
authors.lastname: Lohr
authors.forename: Carolina
authors.initials: C
authors.lastname: Funayama
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Sanseverino
authors.forename: Júlio César
authors.initials: JC
authors.lastname: Longuercio-Leite
authors.forename: Janice C
authors.initials: JC
authors.lastname: Coelho
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Carmen
authors.initials: C
authors.lastname: Regla-Vargas
mesh_terms: 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