Related Experiment Videos
Development of the phenylketonuria screening programme in Estonia
K Ounap1, H Lilleväli, A Metspalu
1Medical Genetics Center, Tartu University Children's Hospital, Estonia.
Insights
Estonia established newborn screening for phenylketonuria (PKU) in 1993. The program identified a birth prevalence of classic PKU higher than the European average, indicating a need for continued monitoring.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Screening
Background:
- Phenylketonuria (PKU) is a rare genetic disorder.
- Effective newborn screening programs are crucial for early diagnosis and management.
- Estonia aimed to establish a robust PKU screening program.
Purpose of the Study:
- To develop and implement a phenylketonuria (PKU) screening program in Estonia.
- To determine the birth prevalence of PKU in the Estonian population.
Main Methods:
- Retrospective data collection of PKU patients born between 1980-1992.
- Prospective newborn screening using a modified fluorometric phenylalanine assay from 1993-1995.
- Screening covered 85% of newborns during the study period.
Main Results:
- Six cases of classical PKU were diagnosed in 36,074 screened newborns (1993-1995).
- No mild hyperphenylalaninemia cases were detected.
- Retrospective incidence: 1 in 8090; Prospective incidence: 1 in 6010 live births.
Conclusions:
- The birth prevalence of classical PKU in Estonia is higher than the European average.
- The prevalence is comparable to some Eastern and Middle European countries.
- The developed screening program effectively identified PKU cases.
Objective:
To develop the phenylketonuria (PKU) screening programme in Estonia.
Method:
All data about patients with PKU, born during 1980-92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine.
Results:
During three years (1993-5) 36,074 newborns (85% of the total) were screened for PKU. PKU was diagnosed in six cases during the first four to six weeks of life. All investigated cases could be classified as classical PKU. No cases of mild forms of hyperphenylalaninaemia were diagnosed. The retrospective study showed an average incidence of PKU of 1 in 8090, the prospective study identified a comparable incidence of 1 in 6010 live births.
Conclusion:
The prevalence at birth of classic PKU in Estonia is higher than the average in Europe and similar to that of some eastern and middle European countries.