Author/Authors :
Mitsutoshi Munakata، نويسنده , , Osamu Sakamoto، نويسنده , , Taro Kitamura، نويسنده , , Mamiko Ishitobi، نويسنده , , Hiroyuki Yokoyama، نويسنده , , Kazuhiro Haginoya، نويسنده , , Noriko Togashi، نويسنده , , Hajime Tamura، نويسنده , , Shuichi Higano، نويسنده , , Shoki Takahashi، نويسنده , , Toshihiro Ohura، نويسنده , , Yasuko Kobayashi، نويسنده , , Akira Onuma، نويسنده , , Kazuie Iinuma، نويسنده ,
Abstract :
We report on metabolic changes in the brain of a boy with Menkes disease. He was treated with parenteral copper (Cu)-histidine supplementation, from 5 months of age, and assessed with proton magnetic resonance spectroscopy (1H-MRS). The single-voxel 1H-MRS before treatment revealed an accumulation of lactate and a reduced N-acetyl aspartate (NAA)/total creatine (tCr) ratio with a z-score of −3.0. During treatment, the lactate signal faded away, whereas the NAA signal gradually increased to a z-score of −1.5 at 120 days of treatment. The choline/tCr ratio did not deviate much initially (z-score +0.5), but the ratio increased markedly during treatment (z-score +4.8). Consequently, the Cu-histidine therapy initiated after the critical period still improved the neuronal metabolism, suggesting that some Cu was delivered to neurons. Nevertheless, the brain atrophy, impaired myelination, and severe neurological symptoms were not ameliorated.
