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Conference Paper: NMR-based urinalysis for rapid diagnosis of inborn errors of metabolism
Title | NMR-based urinalysis for rapid diagnosis of inborn errors of metabolism |
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Authors | |
Issue Date | 2015 |
Publisher | Informa 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? |
Abstract | AIMS: 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. |
Description | This journal suppl. entitled: Australasian Division of the International Academy of Pathology Abstracts 39th Annual Scientific Meeting 2014 |
Persistent Identifier | http://hdl.handle.net/10722/225417 |
ISSN | 2023 Impact Factor: 3.6 2023 SCImago Journal Rankings: 0.919 |
DC Field | Value | Language |
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dc.contributor.author | Law, CY | - |
dc.contributor.author | Lam, CW | - |
dc.date.accessioned | 2016-05-12T04:48:43Z | - |
dc.date.available | 2016-05-12T04:48:43Z | - |
dc.date.issued | 2015 | - |
dc.identifier.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 | - |
dc.identifier.issn | 0031-3025 | - |
dc.identifier.uri | http://hdl.handle.net/10722/225417 | - |
dc.description | This journal suppl. entitled: Australasian Division of the International Academy of Pathology Abstracts 39th Annual Scientific Meeting 2014 | - |
dc.description.abstract | AIMS: 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.language | eng | - |
dc.publisher | Informa Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00313025.asp | - |
dc.relation.ispartof | Pathology | - |
dc.rights | Pathology. Copyright © Informa Healthcare. | - |
dc.title | NMR-based urinalysis for rapid diagnosis of inborn errors of metabolism | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Law, CY: ericlaw@hku.hk | - |
dc.identifier.email | Lam, CW: ching-wanlam@pathology.hku.hk | - |
dc.identifier.authority | Law, CY=rp01586 | - |
dc.identifier.authority | Lam, CW=rp00260 | - |
dc.identifier.doi | 10.1097/01.PAT.0000461460.65020.9d | - |
dc.identifier.volume | 47 | - |
dc.identifier.issue | suppl. 1 | - |
dc.identifier.spage | S55 | - |
dc.identifier.epage | S56 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 0031-3025 | - |