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[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2014

Wang Qiao, Ding Yuan, Wang Jing-Min, Huang Qiong-Hui, Zhao Cheng-Feng, Liu Yu-Peng, Li Xi-Yuan, Wu Tong-Fei, Song Jin-Qing, Wang Yu-Jie, Yang Yan-Ling

Abstract excerpt

Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed. Prenatal diagnosis had been performed for a fetus of a family. Three patients were admitted at the age of 8-9 months due to severe epilepsies and marked delayed...

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PMID: 24927440

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