Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
Magnetic resonance spectroscopy (MRS) of a 12-year-old female patient with glutaric aciduria type II was compared with data obtained from four healthy age- and sex-matched volunteers. In the clinically active phase, conventional magnetic resonance imaging showed mild ventricular dilatation. Frontal lobe choline/creatine (Cho/Cr) ratio (1.98) was higher than the ratios reported for the comparison participants (1.64 [SD 0.21]). The N-acetylaspartate/creatine (NAA/Cr) ratio (1.95) was lower than normal limits (2.66 [SD 0.23]). After successful riboflavin treatment and dietary restriction for proteins, the NAA/Cr ratio was within the normal range (2.44) and Cho/Cr ratio was below the normal range (1.15), suggesting riboflavin-responsive multiple acyl-coA dehydrogenase deficiency. An elevated Cho/Cr ratio and decreased NAA/Cr ratio is consistent with a demyelinating process in the active phase of glutaric aciduria type II. MRS helps to monitor the progress of the disease and the efficacy of treatment by revealing changes in NAA/Cr and Cho/Cr ratios.
Firat
Ahmet Kemal
AK
Department of Radiology, Turgut Ozal Medical Center, Inonu University Medical Faculty, Malatya, Turkey.
Karakas
Hakki Muammer
HM
Yakinci
Cengiz
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000652:urine*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy
D005977:Glutarates; D001224:Aspartic Acid; C000179:N-acetylaspartate; C035736:glutaric acid; D003401:Creatine; D002794:Choline