Demonstration of Glycine Peaks at 3.50 ppm in a Patient with van der Knaap Syndrome

摘要

Summary: Elevated levels of glycine in the CSF have recently been documented in van der Knaap syndrome (diffuse leukoencephalopathy associated with cystic degeneration of the white matter). This report describes a patient affected with the syndrome in whom proton MR spectroscopy showed probable glycine peaks at 3.50 ppm in the brain parenchyma. An experimental study with a superconducting 9.397-T laboratory spectrometer identified the location of pure glycine at 3.52 ppm, originating from the methylene (CH₂) group of the molecule. This suggests that the peak at 3.50 ppm in patients with van der Knaap syndrome may belong to glycine, as a slight shift in peak resonances is possible as a result of spatial electron interactions.