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Magnetic resonance spectroscopic characteristics of glutaric aciduria type II
Author(s) -
Kemal Ahmet,
Karakas Hakki Muammer,
Yakinci Cengiz
Publication year - 2006
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2006.tb01234.x
Subject(s) - creatine , choline , magnetic resonance imaging , glutaric acid , riboflavin , chemistry , medicine , endocrinology , nuclear magnetic resonance , biochemistry , radiology , physics
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.