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.
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Accepted: August 10, 2004
Received in revised form: July 10, 2004
Received: September 18, 2003
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.