Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution H-1 NMR spectroscopy
authors Duarte, IF; Goodfellow, BJ; Barros, A; Jones, JG; Barosa, C; Diogo, L; Garcia, P; Gill, AM
nationality International
journal NMR IN BIOMEDICINE
author keywords nMR; GSD; glycogen storage disease; plasma; lipoproteins; biomarker
keywords MAGNETIC-RESONANCE-SPECTROSCOPY; HUMAN BLOOD-PLASMA; NMR-SPECTROSCOPY; INBORN-ERRORS; DIFFUSION-COEFFICIENTS; LIPOPROTEINS; URINE; DEFICIENCY; LIPIDS; H-1
abstract This paper reports the first application of high-resolution H-1 NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative to a set of control samples. The relaxation-weighted spectra allowed changes in low molecular weight compounds to be detected more clearly, whereas diffusion-edited spectra were used to characterise the plasma lipoprotein profile. Low molecular weight metabolites with altered levels in most patients were lactate, ketone bodies, acetate, creatine/creatinine and glucose. One of the patients showed distinctively lower glucose levels and higher lactate and ketone body contents, suggesting poorer metabolic control of the disease compared with other patients. In addition, a metabolite tentatively identified as alpha-hydroxyisobutyrate was only detected in the spectra of GSD1a plasmas, representing, therefore, a possible novel GSD1a biomarker. Total lipoprotein contents were higher in the plasma from GSD1a patients. Furthermore, lower HDL and higher VLDL + LDL levels also characterised the plasma of these patients. Preliminary results on principal component analysis of H-1 NMR spectra allowed a clear separation between GSD1a and control plasmas. The specificity of the changes observed to GSD1a is discussed, together with the recognised potential of NMR and pattern recognition methods for aiding the diagnosis of GSD1a. Copyright (c) 2006 John Wiley & Sons, Ltd.
publisher WILEY-BLACKWELL
issn 0952-3480
year published 2007
volume 20
issue 4
beginning page 401
ending page 412
digital object identifier (doi) 10.1002/nbm.1073
web of science category Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy
subject category Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy
unique article identifier WOS:000246767000001
  ciceco authors
  impact metrics
journal analysis (jcr 2017):
journal impact factor 3.031
5 year journal impact factor 3.420
category normalized journal impact factor percentile 75.070
dimensions (citation analysis):
altmetrics (social interaction):



 


Sponsors

1suponsers_list_ciceco.jpg