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Conference Paper: NMR-based urinalysis for rapid diagnosis of inborn errors of metabolism

TitleNMR-based urinalysis for rapid diagnosis of inborn errors of metabolism
Authors
Issue Date2015
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00313025.asp
Citation
The 39th Annual Scientific Meeting of the Australasian Division of the International Academy of Pathology, Brisbane, Australia, 30 May-1 June 2014. In Pathology, 2015 , v. 47 suppl. 1, p. S55-S56 How to Cite?
AbstractAIMS: A rapid diagnosis for patients with suspected inborn errors of metabolism (IEM) is clinically important. However, most urine organic acid analysis (UOA) using GC-MS takes time. Here, we developed a rapid workflow using nuclear magnetic resonance (NMR) spectroscopy-based urinalysis as a complementary diagnostic tool to UOA. METHODS: Urine samples will be analysed using 1H-NMR spectroscopy, including 100 urine controls without IEM and urine samples from patients with beta-ketothiolase deficiency (BKD), beta-ureidopropionase deficiency (UPD), propionic acadaemia (PA), multiple carboxylase deficiency (MCD) and succinic semialdehyde dehydrogenase (SSADH) deficiency. A 2-dimension (1H-13C heteronuclear single quantum correlation, HSQC) will be performed to provide structural-based evidence on the positive identification of metabolites if necessary. RESULTS: Disease-specific markers were identified in all patients with IEM: butanone in BKD, β-ureidoisobutyric and β-ureidopropionic acids in UPD, 3-hydroxypropionic acid in PA, 3-hydroxyisovaleric acid in MCD, and 4-hydroxybutyric acid in SSADH deficiency, and they were not found in excess in unaffected controls. DISCUSSION: The operation of NMR is simple and fast; sample preparation is a 2-step procedure without the needs of derivatisation while a usual 1H-NMR acquisition takes <15 minutes. We envisage NMR analysis will play an essential role in acute paediatric care and will become more available in modern clinical laboratories.
DescriptionThis journal suppl. entitled: Australasian Division of the International Academy of Pathology Abstracts 39th Annual Scientific Meeting 2014
Persistent Identifierhttp://hdl.handle.net/10722/225417
ISSN
2015 Impact Factor: 2.968
2015 SCImago Journal Rankings: 1.049

 

DC FieldValueLanguage
dc.contributor.authorLaw, CY-
dc.contributor.authorLam, CW-
dc.date.accessioned2016-05-12T04:48:43Z-
dc.date.available2016-05-12T04:48:43Z-
dc.date.issued2015-
dc.identifier.citationThe 39th Annual Scientific Meeting of the Australasian Division of the International Academy of Pathology, Brisbane, Australia, 30 May-1 June 2014. In Pathology, 2015 , v. 47 suppl. 1, p. S55-S56-
dc.identifier.issn0031-3025-
dc.identifier.urihttp://hdl.handle.net/10722/225417-
dc.descriptionThis journal suppl. entitled: Australasian Division of the International Academy of Pathology Abstracts 39th Annual Scientific Meeting 2014-
dc.description.abstractAIMS: A rapid diagnosis for patients with suspected inborn errors of metabolism (IEM) is clinically important. However, most urine organic acid analysis (UOA) using GC-MS takes time. Here, we developed a rapid workflow using nuclear magnetic resonance (NMR) spectroscopy-based urinalysis as a complementary diagnostic tool to UOA. METHODS: Urine samples will be analysed using 1H-NMR spectroscopy, including 100 urine controls without IEM and urine samples from patients with beta-ketothiolase deficiency (BKD), beta-ureidopropionase deficiency (UPD), propionic acadaemia (PA), multiple carboxylase deficiency (MCD) and succinic semialdehyde dehydrogenase (SSADH) deficiency. A 2-dimension (1H-13C heteronuclear single quantum correlation, HSQC) will be performed to provide structural-based evidence on the positive identification of metabolites if necessary. RESULTS: Disease-specific markers were identified in all patients with IEM: butanone in BKD, β-ureidoisobutyric and β-ureidopropionic acids in UPD, 3-hydroxypropionic acid in PA, 3-hydroxyisovaleric acid in MCD, and 4-hydroxybutyric acid in SSADH deficiency, and they were not found in excess in unaffected controls. DISCUSSION: The operation of NMR is simple and fast; sample preparation is a 2-step procedure without the needs of derivatisation while a usual 1H-NMR acquisition takes <15 minutes. We envisage NMR analysis will play an essential role in acute paediatric care and will become more available in modern clinical laboratories.-
dc.languageeng-
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00313025.asp-
dc.relation.ispartofPathology-
dc.rightsPathology. Copyright © Informa Healthcare.-
dc.titleNMR-based urinalysis for rapid diagnosis of inborn errors of metabolism-
dc.typeConference_Paper-
dc.identifier.emailLaw, CY: ericlaw@hku.hk-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.authorityLaw, CY=rp01586-
dc.identifier.authorityLam, CW=rp00260-
dc.identifier.doi10.1097/01.PAT.0000461460.65020.9d-
dc.identifier.volume47-
dc.identifier.issuesuppl. 1-
dc.identifier.spageS55-
dc.identifier.epageS56-
dc.publisher.placeUnited Kingdom-

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