title: Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
abstract: OBJECTIVE
  To perform metabolic testing on 406 patients (age range 3-22y [mean 6.71, SD 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those with IEM and nonsyndromic ASD.
  
  
  METHODS
  Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist. For metabolic testing/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias.
  
  
  RESULTS
  The 406 recruited participants fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria of ASD. No biochemical evidence of a metabolic disorder was detected in any of the 406 patients studied. Concerning the retrospective evaluation from the 8500 who had metabolic testing, 464 individuals had a diagnosis of an IEM (394 without the diagnosis of ASD and 70 with ASD diagnosis). Only one individual with IEM had a diagnosis of nonsyndromic ASD at the time of the metabolic study; the metabolic testing had revealed diagnosis of urea-cycle disorder.
  
  
  CONCLUSIONS
  Metabolic testing should be considered in the work-up of individuals with syndromic ASD, but metabolic testing is not cost-effective for individuals with nonsyndromic ASD.
authors.affiliation: Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.affiliation: Unidad Especializada en Trastornos del Desarrollo, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Díez-Juan
authors.affiliation: Unidad Especializada en Trastornos del Desarrollo, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Callejón
authors.affiliation: Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Aroa
authors.initials: A
authors.lastname: Fernandez-De Miguel
authors.affiliation: Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Casado
authors.affiliation: Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Angels
authors.initials: A
authors.lastname: Garcia Cazorla
authors.affiliation: Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano
authors.affiliation: Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003401:Creatine / Q000652:urine; D003404:Creatinine / Q000652:urine; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000523:psychology / Q000652:urine; D009483:Neuropsychological Tests; D011569:Psychiatric Status Rating Scales; D012189:Retrospective Studies; D000067404:Social Communication Disorder / Q000175:diagnosis / Q000209:etiology; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D003404:Creatinine; D003401:Creatine