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- Title
Urine amino and organic acids analysis in developmental delay or intellectual disability.
- Authors
Poplawski, NK; Harrison, JR; Norton, W; Wiltshire, E; Fletcher, JM; Poplawski, N K; Harrison, J R; Fletcher, J M
- Abstract
<bold>Objectives: </bold>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.<bold>Methods: </bold>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).<bold>Results: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
DEVELOPMENTAL disabilities; URINALYSIS; AMINO acids
- Publication
Journal of Paediatrics & Child Health, 2002, Vol 38, Issue 5, p475
- ISSN
1034-4810
- Publication type
journal article
- DOI
10.1046/j.1440-1754.2002.00032.x