Asif Mahmood1,2, Gerald V. Raymond1,2, Michael J. Moser3, Peter B. Barker2,3
1Neurology, Johns Hopkins University, Baltimore, MD, USA; 2Kennedy Krieger Institute, Baltimore, MD, USA; 3Radiology, Johns Hopkins University, Baltimore, MD, USA
Serial, yearly proton MRSI was performed in 58 asymptomatic boys with X-linked adrenoleukodystrophy (ALD) enrolled in a clinical trial of the dietary therapy Lorenzos oil. Metabolite ratios were examined for correlations with peripheral very long chain fatty acid (C26) levels. Significant negative correlations were found between posterior white matter NAA/Cho and NAA/Cr ratios and C26. These studies confirm preliminary results in a smaller number of subjects, which suggest that lack of control of C26 levels leads to axonal damage or dysfunction in the key white matter regions in ALD.