COPPER-HISTIDINE THERAPY FOR MENKES DISEASE

被引:98
作者
SARKAR, B
LINGERTATWALSH, K
CLARKE, JTR
机构
[1] HOSP SICK CHILDREN, DEPT BIOCHEM, TORONTO M5G 1X8, ONTARIO, CANADA
[2] HOSP SICK CHILDREN, DEPT PROT RES, TORONTO M5G 1X8, ONTARIO, CANADA
[3] HOSP SICK CHILDREN, DEPT PEDIAT, TORONTO M5G 1X8, ONTARIO, CANADA
[4] HOSP SICK CHILDREN, DEPT GENET, TORONTO M5G 1X8, ONTARIO, CANADA
[5] UNIV TORONTO, DEPT PEDIAT, TORONTO M5S 1A1, ONTARIO, CANADA
[6] UNIV TORONTO, DEPT BIOCHEM, TORONTO M5S 1A1, ONTARIO, CANADA
基金
英国医学研究理事会;
关键词
D O I
10.1016/S0022-3476(05)80870-4
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years. We report here our 17 years' experience with the treatment of Menkes disease with subcutaneous administration of copper-histidine. Two patients (16 and 6 years of age) whose therapy was begun within 1 month of birth have done well neurologically. The other five patients have done poorly despite treatment initiated at 2 to 7 months of age. Copper-histidine therapy may be an effective treatment if started early.
引用
收藏
页码:828 / 830
页数:3
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