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KMID : 0356920070530050672
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Korean Journal of Anesthesiology
2007 Volume.53 No. 5 p.672 ~ p.675
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An Anesthetic Experience in a Patient with Menkes Disease
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Shinn Helen-Ki
Lee Hong-Sik
Cha Young-Deog
Lee Jae-Hak
Kim Hyun-Zu
Song Jang-Ho
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Abstract
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Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting in copper deficiency. It is characterized by seizure, retarded neurological development, kinky hair, skeletal abnormality, recurrent infection and subnormal body temperature. In addition, gastroesophageal reflux with the risk of aspiration is another important feature. This article is the first report of anesthetic management in a patient with Menkes disease who underwent gastrostomy and bladder diverticulectomy in Korea. (Korean J Anesthesiol 2007; 53: 672∼5)
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KEYWORD
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copper deficiency, copper-dependent enzyme, kinky hair disease, Menkes disease
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