Author/Editor		Battelino, T; Kržišnik, C; Pavlin, K
Title		Early detection and follow up of children with phenylketonuria in Slovenia
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 63, št. Suppl 1
Publication year		1994
Volume		str. I-25-I-28
Language		eng
Abstract		Background. In Slovenia, first efforts to start neonatal screening for phenylketonuria (PKU) were made in 1967. The screening has run successfully since 1979. In July 1992, the quantitative fluorometric method was introduced. Results from the 13-year period of Guthrie method application are compared to results from the present period. Additionally, appropriate treatment, duration of therapy and maternal PKU program are discussed. Methods. In all newborns with elevated phenylalanine (PHE) levels detected by neonatal screening performed with a dried blood drop collected from the newborn's heel on a filter paper on days 3 to 5 (cut off level 0.12 mmol/l), serum phenylalanine determination was done. Patients were categorized according to the severity of the PHE elevation. Incidences were calculated and compared by chi-square test. Results. The incidence of classical PKU is 1/8.000. The incidence of mild hyperphenylalaninemia (PHE 0.12-0.59 mmol/l) in the last period, when the quantitative fluorometric screening method is used, is 1/476, which is significantly (p less th. 0.0001) higher than before. One patient with 6-pyruvoyltetrahydrobiopterin synthetase (6-PTS) deficieney was diagnosed. Conclusions. The incidence of classical PKU in Slovenia over the last 13 years is slightly higher than the estimated mean world incidence (1/10,000). Fluorometric screening method enables detection of mild PHE elevations soon after birth. Female patients with serum PHE above 0.24 mmol/l are enrolled in the Maternal PKU program. Patients and their parents are encouraged to stick to the low PHE dietas long as possible. Routine genetic analysis and measurements of PHE hydroxylase activity, would be beneficial.
Descriptors		PHENYLKETONURIA PHENYLKETONURIA, MATERNAL MASS SCREENING PHENYLALANINE PREGNANCY COMPLICATIONS SLOVENIA INFANT, NEWBORN