title: [Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].
abstract: BACKGROUND
  The correct selection of pediatric patients with clinical suspicion of mitochondrial diseases is the first step to achieve a definitive diagnosis.
  
  
  METHODS
  The results of the initial biochemical tests obtained in 35 children diagnosed of respiratory chain or pyruvate metabolism defects were reviewed. The efficiency of basal determinations (lactate, pyruvate, ketone bodies, amino and organic acids and carnitine), cerebrospinal fluid (CSF) analysis, and dynamic tests (exercise, glucose loading and glucose oxidation by lymphocytes) was discussed.
  
  
  RESULTS
  Plasma lactate and alanine, and CSF metabolites were the most informative measurements in basal status. Urine organic acids were very useful to confirm the initial suspicion. Glucose loading was the most informative and reliable challenge test for pediatric population, while exercise test was especially useful for older children with fatigability or peripheral nervous system involvement.
  
  
  CONCLUSIONS
  Glucose oxidation by lymphocytes might be applied when the other dynamic tests can not be performed or are not informative.
authors.affiliation: Servei de Bioquimica, Hospital Universitari Sant Joan de Déu, Barcelona, España.
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: A
authors.initials: A
authors.lastname: Vernet
authors.forename: J
authors.initials: J
authors.lastname: Campistol
mesh_terms: D000409:Alanine / Q000097:blood; D000596:Amino Acids / Q000652:urine; D002331:Carnitine / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas / Q000379:methods; D002952:Citric Acid Cycle / Q000502:physiology; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport / Q000502:physiology*; D005080:Exercise Test; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007657:Ketone Bodies / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D008214:Lymphocytes / Q000378:metabolism; D018579:Patient Selection; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000097:blood* / Q000134:cerebrospinal fluid
chemical_list: D000596:Amino Acids; D004272:DNA, Mitochondrial; D007657:Ketone Bodies; D019344:Lactic Acid; D005947:Glucose; D000409:Alanine; D002331:Carnitine
vernacular_title: Deficiencias de la cadena respiratoria y del metabolismo del piruvato en pacientes pediátricos: evaluación de las pruebas bioquímicas de selección.