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KMID : 0391520070150010094
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Journal of the Korean Child Neurology Society
2007 Volume.15 No. 1 p.94 ~ p.101
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3-year Follow-up of a Menkes Disease Patient
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You Ju-Hee
Yoo Han-Wook
Kim Kyoung-Sim
Kim Yong-Wook
Kim Eun-Young
Paek Hyun
Jung Kwon
Sun Gyu-Keun
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Abstract
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Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.
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KEYWORD
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Menkes disease, Copper, ATP7A mutations
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