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KMID : 0391520140220030186
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Journal of the Korean Child Neurology Society
2014 Volume.22 No. 3 p.186 ~ p.190
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A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis
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Park Jin-Seok
Lee Jeong-Min
Ki Chang-Seok
Kim Young-Eun
Rhie Seon-Kyeong
Chae Kyu-Young
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Abstract
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Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
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KEYWORD
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Menkes Kinky Hair Syndrome, Pyloric Stenosis, Nitric Oxide Synthase, Copper, ATP7A protein
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