In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism

Sytske H. Moolenaar, Marjo S. Van Der Knaap, U. F H Engelke, P. J W Pouwels, F. S M Janssen-Zijlstra, Nanda M. Verhoeven, Cornelis Jakobs, Ron A. Wevers

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

In vivo NMR spectroscopy was performed on the brain of a patient with a leukoencephalopathy, revealing unknown resonances between 3.5 and 4.0 ppm. In addition, urine and CSF of the patient were measured using high-resolution NMR spectroscopy. Also in these in vitro spectra, unknown resonances were observed in the 3.5-4.0 ppm region. Homonuclear 1H two-dimensional J-resolved spectroscopy (JRES) and 1H-1H correlation spectroscopy (COSY) were performed on the patient's urine for more accurate assignment of resonances. The NMR spectroscopic studies showed that the unknown resonances could be assigned to arabinitol and ribitol. This was confirmed using gas chromatography. The arabinitol was identified as D-arabinitol. The patient is likely to suffer from an as yet unknown inborn error of metabolism affecting D-arabinitol and ribitol metabolism. The primary molecular defect has not been found yet. Urine spectra of patients suffering from diabetes mellitus or galactosemia were recorded for comparison. Resonances outside the 3.2-4.0 ppm region, which are the most easy to recognize in body fluid spectra, allow easy recognition of various sugars and polyols. The paper shows that NMR spectroscopy in body fluids may help identifying unknown resonances observed in in vivo NMR spectra.

Original languageEnglish
Pages (from-to)167-176
Number of pages10
JournalNMR in Biomedicine
Volume14
Issue number3
DOIs
Publication statusPublished - 23 Jun 2001

Cite this

Moolenaar, S. H., Van Der Knaap, M. S., Engelke, U. F. H., Pouwels, P. J. W., Janssen-Zijlstra, F. S. M., Verhoeven, N. M., ... Wevers, R. A. (2001). In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR in Biomedicine, 14(3), 167-176. https://doi.org/10.1002/nbm.690
Moolenaar, Sytske H. ; Van Der Knaap, Marjo S. ; Engelke, U. F H ; Pouwels, P. J W ; Janssen-Zijlstra, F. S M ; Verhoeven, Nanda M. ; Jakobs, Cornelis ; Wevers, Ron A. / In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. In: NMR in Biomedicine. 2001 ; Vol. 14, No. 3. pp. 167-176.
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abstract = "In vivo NMR spectroscopy was performed on the brain of a patient with a leukoencephalopathy, revealing unknown resonances between 3.5 and 4.0 ppm. In addition, urine and CSF of the patient were measured using high-resolution NMR spectroscopy. Also in these in vitro spectra, unknown resonances were observed in the 3.5-4.0 ppm region. Homonuclear 1H two-dimensional J-resolved spectroscopy (JRES) and 1H-1H correlation spectroscopy (COSY) were performed on the patient's urine for more accurate assignment of resonances. The NMR spectroscopic studies showed that the unknown resonances could be assigned to arabinitol and ribitol. This was confirmed using gas chromatography. The arabinitol was identified as D-arabinitol. The patient is likely to suffer from an as yet unknown inborn error of metabolism affecting D-arabinitol and ribitol metabolism. The primary molecular defect has not been found yet. Urine spectra of patients suffering from diabetes mellitus or galactosemia were recorded for comparison. Resonances outside the 3.2-4.0 ppm region, which are the most easy to recognize in body fluid spectra, allow easy recognition of various sugars and polyols. The paper shows that NMR spectroscopy in body fluids may help identifying unknown resonances observed in in vivo NMR spectra.",
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In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. / Moolenaar, Sytske H.; Van Der Knaap, Marjo S.; Engelke, U. F H; Pouwels, P. J W; Janssen-Zijlstra, F. S M; Verhoeven, Nanda M.; Jakobs, Cornelis; Wevers, Ron A.

In: NMR in Biomedicine, Vol. 14, No. 3, 23.06.2001, p. 167-176.

Research output: Contribution to journalArticleAcademicpeer-review

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AU - Moolenaar, Sytske H.

AU - Van Der Knaap, Marjo S.

AU - Engelke, U. F H

AU - Pouwels, P. J W

AU - Janssen-Zijlstra, F. S M

AU - Verhoeven, Nanda M.

AU - Jakobs, Cornelis

AU - Wevers, Ron A.

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N2 - In vivo NMR spectroscopy was performed on the brain of a patient with a leukoencephalopathy, revealing unknown resonances between 3.5 and 4.0 ppm. In addition, urine and CSF of the patient were measured using high-resolution NMR spectroscopy. Also in these in vitro spectra, unknown resonances were observed in the 3.5-4.0 ppm region. Homonuclear 1H two-dimensional J-resolved spectroscopy (JRES) and 1H-1H correlation spectroscopy (COSY) were performed on the patient's urine for more accurate assignment of resonances. The NMR spectroscopic studies showed that the unknown resonances could be assigned to arabinitol and ribitol. This was confirmed using gas chromatography. The arabinitol was identified as D-arabinitol. The patient is likely to suffer from an as yet unknown inborn error of metabolism affecting D-arabinitol and ribitol metabolism. The primary molecular defect has not been found yet. Urine spectra of patients suffering from diabetes mellitus or galactosemia were recorded for comparison. Resonances outside the 3.2-4.0 ppm region, which are the most easy to recognize in body fluid spectra, allow easy recognition of various sugars and polyols. The paper shows that NMR spectroscopy in body fluids may help identifying unknown resonances observed in in vivo NMR spectra.

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