Title: Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
Authors: Wary, Claire ×
Nadaj-Pakleza, Aleksandra
Laforêt, Pascal
Claeys, Kristl
Carlier, Robert
Monnet, Aurélien
Fleury, Servanne
Baligand, Céline
Eymard, Bruno
Labrune, Philippe
Carlier, Pierre G #
Issue Date: Aug-2010
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:20 issue:8 pages:548-558
Article number: 10.1016/j.nmd.2010.06.011
Abstract: Debranching enzyme deficiency (Glycogen storage disease (GSD) type III) causes progressive muscle wasting myopathy. A comprehensive nuclear magnetic resonance study involving spectroscopy (NMRS) and imaging (NMRI) evaluated status and function of calf muscles in 18 GSDIII patients. At rest, (31)P NMRS showed elevated pH and accumulation of anomalous phosphomonoesters, (13)C NMRS quantified excess glycogen accumulation and NMRI demonstrated progressive fat replacement that paralleled muscle weakness. Multi-parametric functional NMR, performed at recovery from a single bout of aerobic exercise, simultaneously assessed oxidative phosphorylation from (31)P NMRS, muscle perfusion and BOLD, a marker of blood oxygenation, from arterial spin labeled NMRI, and oxygen uptake from deoxymyoglobin proton NMRS. While blocked glycogenolysis caused inadequate substrate supply to the mitochondria, combined measurements suggested that altered perfusion was also responsible for impaired post-exercise phosphocreatine recovery and could contribute to exercise intolerance in GSDIII. These non-invasive investigations provide new indices to quantify the progression of GSDIII.
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

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