In vivoand in vitroNMR spectroscopy reveal a putative novel inborn error involving polyol metabolism

Autor: Moolenaar, Sytske H., Knaap, Marjo S. van der, Engelke, Udo F. H., Pouwels, Petra J. W., Janssen‐Zijlstra, Fokje S. M., Verhoeven, Nanda M., Jakobs, Cornelis, Wevers, Ron A.
Zdroj: NMR in Biomedicine; May 2001, Vol. 14 Issue: 3 p167-176, 10p
Abstrakt: In vivoNMR 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 vitrospectra, 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 vivoNMR spectra. Copyright © 2001 John Wiley & Sons, Ltd.
Databáze: Supplemental Index