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Menkes Kinky Hair Syndrome: Is it a treatable disorder?
Author(s) -
Garnica A. D.,
Frias J. L.,
Rennert O. M.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb01294.x
Subject(s) - medicine , hair disease , dermatology
A male infant with Menkes Kinky Hair Syndrome was treated with a 3‐week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero .