Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature.
Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits. We present the results of multi-slice proton MR spectroscopy and diffusion-weighted imaging of the brain in two patients with methylmalonic acidemia. The findings consisted of restricted diffusion and elevated lactate in the globi pallidi, compatible with acute infarction (patient 1) and elevated lactate in CSF (patient 2).
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Russell C. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, MD 21287, USA.
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D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002544:Cerebral Infarction / Q000175:diagnosis / Q000378:metabolism; D005260:Female; D005917:Globus Pallidus / Q000378:metabolism; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000134:cerebrospinal fluid / Q000378:metabolism; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D011522:Protons
D011522:Protons; D019344:Lactic Acid; D008764:Methylmalonic Acid