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Original Article
Pterin & DHPR Measurement and DNA Analysis in Korean PKU Patients
Chol Hee Chong, Hye Yong Lee, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim, Yoshiyuki Okano
Clin Exp Pediatr. 1993;36(12):1681-1690.   Published online December 15, 1993
Phenylketonuria in metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa...
A Clinical Study in Phenylketonuria
Hye Kyeong Nam, Jin Seop Shim, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim
Clin Exp Pediatr. 1992;35(1):69-79.   Published online January 15, 1992
Thirteen cases of phenylketonuria who were diagnosed at department of pediatrics, Soonchunhyang University Hospital, and four cases at other hospitals and other countries from July, 1984 to April, 1991 were reviewed and analyzed. The results were as follow: 1) All 17 cases were between the age of 3 days and 19 years, and the male to female ratio was 1.43:1. 2)...