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Systematic review and meta-analysis
Genetics and Metabolism
Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis
Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi, Zohre Bagherinezhad, Farzaneh Zolala
Clin Exp Pediatr. 2020;63(2):34-43.   Published online February 6, 2020
Question: What is the global prevalence of classic phenylketonuria based on Neonatal Screening Program Data?
Finding: The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand.
Meaning: This difference in the prevalence may be due to differences in the number of consanguineous marriages among the different regions, phenylalanine cutoff points, and sample sizes.
Case Report
A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2008;51(5):546-550.   Published online May 15, 2008
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals­like the mother of this case­who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels....
Original Article
A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
Hoe Cheol Yoon, Nyeon Cheon Kim, Dong Hwan Lee
Clin Exp Pediatr. 2005;48(4):369-375.   Published online April 15, 2005
Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening...
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)...
Case Report
A Case of Phenylketonuria.
Ki Suk Bahn, Jin Yong Lee, Chang Jun Coe
Clin Exp Pediatr. 1985;28(1):99-102.   Published online January 31, 1985
Lately, we experienced a case of classic PKU and we report this with reviewing the references.
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