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.
Keywords
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Article info
Publication history
Accepted:
August 10,
2004
Received in revised form:
July 10,
2004
Received:
September 18,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
