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양솔몬 ( Sol Mon Yang ),서광석 ( Kwang Suk Seo ),김현정 ( Hyun Jeong Kim ),염광원 ( Kwang Won Yum ) 대한마취과학회 2007 Korean Journal of Anesthesiology Vol.53 No.1
Phenylketonuria (PKU), an autosomal recessive disorder, occurs in one of 53,000 births in Korea. The disorder is associated with deficient activity of phenylalanine hydroxylase. In PKU, phenylalanine cannot be used in a normal fashion because of the deficient enzyme. Untreated, affected individuals develop marked mental disabilities, behavioral difficulties, seizures, rashes, pigment dilution, and unusual body odor. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. During the restricted diet, PKU patients have an increased risk of developing vitamin B12 deficiency because of a limited intake of animal products. We report a successful anesthetic management in a patient with phenylketonuria for dental procedures. (Korean J Anesthesiol 2007; 53: 136~9)