Abstract
A 4 month-old male with Menkes Kinky Hair Syndrome (MKHS) was treated with plasma infusions [ceruloplasmin (Ce) oxidase activity 0.388±0.060], 10 ml/kg/day, after a course of subcutaneous CuSO4. Prior to plasma therapy, the serum copper (Cu), Ce, and liver Cu were low; urine Cu and amino acids were increased (Table).
Plasma infusion increased serum Cu, Ce, and liver Cu; urine Cu and aminoaciduria decreased (Table). The infusions were followed by a 14-day course of cupric acetate, 60 μg/kg/day, subcutaneously, during which serum Cu and ceruloplasmin were maintained; however, the urine Cu increased, the aminoaciduria increased, and the liver Cu decreased (Table).
Parenteral Cu salts are the accepted treatment for Menkes Syndrome. However, they are apparently not effective in improving liver Cu stores, and may cause aminoaciduria. In contrast, infusions of plasma, which contains Cu as Ce, increase serum Cu and Ce, increase liver Cu, decrease urine Cu, and do not cause aminoaciduria. The subcellular distribution of infused ceruloplasmin-bound Cu is known to be different from that of free Cu. This observation, together with these data, imply that protein-bound Cu, as ceruloplasmin may be a more effective treatment for MKHS.
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Garnica, A., Sargeant, D., Desrosiers, P. et al. PLASMA INFUSION IN MENKES SYNDROME. Pediatr Res 11, 455 (1977). https://doi.org/10.1203/00006450-197704000-00514
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DOI: https://doi.org/10.1203/00006450-197704000-00514