title: Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.
abstract: Metabolic decompensation of maple syrup urine disease in a 3.5-year-old boy was monitored by means of proton magnetic resonance imaging and spectroscopy. In the acute stage, imaging showed diffuse cerebral edema. Proton spectra showed an elevation of lactate and a previously unassigned resonance at 1 ppm. This peak disappeared with normalization of branched-chain amino acids and oxoacids in the plasma and cerebrospinal fluid. In vitro spectroscopy of these metabolites at 1.5 T confirmed the chemical shift position of their methyl resonances at 1 ppm. The duration of lactate elevation correlated with the presence of brain edema and coma. These results demonstrate that magnetic resonance imaging can monitor therapeutic effects, and suggest that proton spectroscopy can detect cerebral accumulation of branched-chain amino acids and oxoacids in maple syrup urine disease.
authors: Department of Magnetic Resonance, University of Innsbruck, Austria.
authors: S R
authors: SR
authors: Felber
authors: W
authors: W
authors: Sperl
authors: A
authors: A
authors: Chemelli
authors: C
authors: C
authors: Murr
authors: U
authors: U
authors: Wendel
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D007658:Ketone Oxidoreductases / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000378:metabolism*; D009097:Multienzyme Complexes / Q000378:metabolism
chemical_list: D000597:Amino Acids, Branched-Chain; D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)