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Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
Author(s) -
Felber S. R.,
Sperl W.,
Chemelli A.,
Murr Ch.,
Wendel U.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330412
Subject(s) - maple syrup urine disease , chemistry , decompensation , nuclear magnetic resonance spectroscopy , magnetic resonance imaging , taurine , nuclear magnetic resonance , edema , cerebral edema , medicine , amino acid , pathology , biochemistry , leucine , radiology , stereochemistry , physics
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.