Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease.
Using localized proton magnetic resonance spectroscopy (1H-MRS), accumulation of branched-chain amino acids (BCAA) and their corresponding 2-oxo acids (BCOA) could be non-invasively demonstrated in the brain of a 9-year-old girl suffering from classical maple syrup urine disease. During acute metabolic decompensation, the compounds caused a signal at a chemical shift of 0.9 ppm which was assigned by in vitro experiments. The brain tissue concentration of the sum of BCAA and BCOA could be estimated as 0.9 mmol/l. Localized 1H-MRS of the brain appears to be suitable for examining patients suffering from maple syrup urine disease in different metabolic states.
Heindel
W
W
Department of Diagnostic Radiology, University of Cologne, Germany.
Kugel
H
H
Wendel
U
U
Roth
B
B
Benz-Bohm
G
G
D000293:Adolescent; D000597:Amino Acids, Branched-Chain / Q000032:analysis; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008375:Maple Syrup Urine Disease / Q000378:metabolism*
D000597:Amino Acids, Branched-Chain