title: Urine amino and organic acids analysis in developmental delay or intellectual disability.
abstract: OBJECTIVE
  To determine the proportion of urine amino and organic acids screening tests (UMS) undertaken for patients referred with developmental delay or intellectual disability (DD/ID), and within the group with DD/ID, to determine the diagnostic yield, the proportion of diagnoses with a therapy and the associated recurrence risks.
  
  
  METHODS
  A retrospective review of request forms and results of UMS, in individuals older than 28 days, referred to the Women's and Children's Hospital, North Adelaide, between 1 January 1992 and 31 December 1998 was carried out. Urine was analysed by ion exchange chromatography (amino acids), gas chromatography/mass spectrometry (organic acids), colorimetric assay (orotic acid) and stable isotope-dilution mass spectrometry (trimethylamine).
  
  
  RESULTS
  A total of 3316 samples were received, 1447 being from patients with DD/ID. A diagnosis was determined for 1.8% of all referrals. For patients with DD/ID, the diagnostic yield was 1.1%, with a similar yield for isolated DD/ID and DD/ID with other features (9/828 vs 7/619; chi2 = 0.006; P = 0.93). Specific therapies were available for 69% of diagnoses associated with DD/ID and 87.5% had known Mendelian or mitochondrial inheritance.
  
  
  CONCLUSIONS
  Urine metabolic screening is an important part of the evaluation of children with DD/ID as it can enable families to make reproductive decisions and children to receive appropriate therapy early.
mesh_terms: D000596:Amino Acids / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange; D002658:Developmental Disabilities / Q000175:diagnosis / Q000628:therapy / Q000652:urine*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000652:urine*; D008297:Male; D009963:Orotic Acid / Q000652:urine*; D012189:Retrospective Studies
chemical_list: D000596:Amino Acids; D009963:Orotic Acid