| 3-year Follow-up of a Menkes Disease Patient. |
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Ju Hee You, Hyun Paek, Kwon Jung, Gyu Keun Sun, Han Wook Yoo, Kyoung Sim Kim, Yong Wook Kim, Eun Young Kim |
1Department of Pediatrics, Kwangju Chistian Hospital, Gwangju, Korea. eykim_kook@yahoo.com
2Department of Pediatrics, College of Medicine, Ulsan University, Asan Medical Center, Seoul, Korea. |
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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. |
| Key Words:
Menkes disease, Copper, ATP7A mutations |
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