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  • Title: Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria.
    Author: Aydin K, Ozmen M, Tatli B, Sencer S.
    Journal: Pediatr Radiol; 2003 Dec; 33(12):872-6. PubMed ID: 12961043.
    Abstract:
    l-2-Hydroxyglutaric aciduria is a rare inherited, neurometabolic disorder. The underlying metabolic defect and the pathophysiology of l-2-hydroxyglutaric aciduria have not yet been defined. We present MR spectroscopy and cranial MR imaging findings, including diffusion-weighted sequences in two male siblings (aged 10 and 12 years). MR spectroscopy revealed a multiplet at 2.10-2.50 ppm and two broad peaks at 0.9-1.6 ppm. The multiplet at 2.10-2.50 ppm might have been created by elevated glutamate and glutamine or l-2-hydroxyglutaric acid itself, which has a similar chemical structure to glutamate. Diffusion-weighted images demonstrated increased diffusion of water molecules in the white-matter lesions.
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