摘要
Menkes病是一种罕见的X连锁隐性遗传病，其临床特征包括卷发、特殊面容、精神/生长发育迟缓以及代谢异常。致病基因ATP7A定位于X染色体，该基因的突变导致一种与铜转运相关的细胞内蛋白缺乏。铜是几种不同的酶的关键辅助因子，它的缺乏导致这些酶的活性下降。组氨酸铜在某些早期治疗的病例可能有效。
Menkes disease is a rare X-linked recessive hereditary disorder. The clinical features of Menkes disease include pilus torti, unusual facies, mental/growth retardation and metabolic dysfunction. The pathogenic gene ATP7A is located on chromosome X, and its genetic mutations lead to the defects in production of an intracellular protein involving in copper transportation. Copper is a key cofactor of several different enzymes and its absence can secondarily impair the action of these enzymes. Copper histidine might be effective in some early cases.
出处
《医学综述》
2009年第16期2461-2463,共3页
Medical Recapitulate
