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Urine amino and organic acids analysis in developmental delay or intellectual disability

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dc.contributor.authorPoplawski, N.
dc.contributor.authorHarrison, J.
dc.contributor.authorNorton, W.
dc.contributor.authorWiltshire, E.
dc.contributor.authorFletcher, J.
dc.date.issued2002
dc.description.abstract<h4>Objectives</h4>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.<h4>Methods</h4>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).<h4>Results</h4>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.<h4>Conclusion</h4>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.
dc.identifier.citationJournal of Paediatrics and Child Health, 2002; 38(5):475-480
dc.identifier.doi10.1046/j.1440-1754.2002.00032.x
dc.identifier.issn1034-4810
dc.identifier.issn1440-1754
dc.identifier.orcidPoplawski, N. [0000-0002-9372-3325]
dc.identifier.urihttp://hdl.handle.net/2440/7553
dc.language.isoen
dc.publisherBlackwell Science Asia
dc.source.urihttps://doi.org/10.1046/j.1440-1754.2002.00032.x
dc.subjectHumans
dc.subjectOrotic Acid
dc.subjectAmino Acids
dc.subjectChromatography, Ion Exchange
dc.subjectRetrospective Studies
dc.subjectDevelopmental Disabilities
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectInfant
dc.subjectFemale
dc.subjectMale
dc.subjectGas Chromatography-Mass Spectrometry
dc.subjectIntellectual Disability
dc.titleUrine amino and organic acids analysis in developmental delay or intellectual disability
dc.typeJournal article
pubs.publication-statusPublished

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