title: Phenylketonuria detected by the neonatal screening program in Thailand.
abstract: Neonatal screening for phenylketonuria (PKU) was introduced as a pilot project in Thailand from 1992--1995, and mass screening was started in 1996 by the Department of Medical Sciences, Ministry of Public Health. Blood samples were collected by heelprick on filter paper either at 48 hours of life or before discharge from the hospital. Elevated blood phenylalanine was identified by screening with the Guthrie method, then followed by the fluorometric method: All infants with a phenylalanine level equal to or greater than 4 mg/dl were recalled and retested using the fluorometric method and confirmed by plasma amino acid analysis and urinary pterins for tetrahydrobiopterin deficiency. A total of 1,062,676 newborns were screened from October 1992--March 2001, with 5 cases confirmed with PKU. The incidence was 1 in 212,535. All patients have been treated with low phenylalanine diet. The results of this study confirm the benefit of early detection and treatment of PKU through the screening program.
authors.affiliation: Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
authors.forename: Suthipong
authors.initials: S
authors.lastname: Pangkanon
authors.forename: Vilai
authors.initials: V
authors.lastname: Ratrisawadi
authors.forename: Wiyada
authors.initials: W
authors.lastname: Charoensiriwatana
authors.forename: Waraporn
authors.initials: W
authors.lastname: Techasena
authors.forename: Kanokporn
authors.initials: K
authors.lastname: Boonpuan
authors.forename: Chantragan
authors.initials: C
authors.lastname: Srisomsap
authors.forename: Jisnuson
authors.initials: J
authors.lastname: Svasti
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000097:blood / Q000172:deficiency; D001800:Blood Specimen Collection; D005260:Female; D005470:Fluorometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology; D015397:Program Evaluation; D011635:Public Health Administration; D013785:Thailand / Q000453:epidemiology
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin