Atypical Menkes patients exhibit 64Cu uptake and retention patterns similar to classical Menkes patients, suggesting these studies can identify atypical presentations.
May support 64Cu testing for atypical Menkes suspicion; leaves open validation before clinical adoption.
We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.
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Tønnesen et al. (1991) studied this question.
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