Results of Screening for Hyperphenylalaninaemia in the Czech Republic in 1970 - 2000

Summary

67 years ago the Norwegian physician and chemist Ásbjorn FOLLING made the first diagnosis of phenylketonuria (PKU). The first diagnoees of PKU in Czechoslovakia was made at the beginning of the sixties by Prof. Bohunka Blehová. Hyperphenylalaninaemia (HPA) screening was obligatory in Czechoslovakia sirce 1975 and remains so in the Czech Republic in agreement with the recommendation of WHO. The screening programme passed sirce 1970 more than 3.7 million newborns. Total of 656 hyperphenylalaninaemias are registered sirce 1960. From 1975 have been diagnosed 510 HPA cases up to now (270 men and 240 women). The total HPA incidence in the Czech Republic is 1 : 7290, the incidence of classical PKU is 1 : 9869 and the incidence of HPA of other types is 1 : 27 901. Orly 3 cases of atypical „malignant PKU" were diagnosed sirce 1970.Four centres implement the hyperphenylalaninaemia-screening programme in the entire Czech Republic. 1. University Hospital Královské Vinohrady - Prague:The screening centre covers the screening and treatment of HPA of 90 % of Bohemia and part of capital Prague. 5ince 1970 more than 2.3 million newborns were screened by programme. For the screening the Guthrie Test is used. The centre diagnosed 367 different types of hyperphenylalaninaemia. 5ince 1975 261 HPA were diagnosed and a total of 367 HPA is registered. 5ince 1975 the incidence of total HPA is 1 : 7796 and the incidence of classical PKU 1 : 10123. The incidence of HPA of other types is 1 : 33 911 sirce 1975. One tase of „malignant PKU" was diagnosed. This centre provides also the congenital hypothyroidism screening in Bohemia.2. Research Institute of Health of the Child - Brno:This centre started the HPA screening programme in southern Moravia in 1972 and from 1992 is covering southern Moravia orly. From 1975 this programme has screened nearly 1.2 million newborns and 174 HPA were diagnosed. 5ince 1972 totally 200 HPA are registered. 5ince 1975 the total HPA incidence is 1 : 6840 and the incidence of classical PKU is 1 : 9676. The incidence of other HPA is 1 : 23 337 sirce 1997. For the screening the Guthrie Test is used. The centre provides also the screening of ar-antitrypsin deficiency.3. Institute for Inherited Metabolic Disorders - Prague:This screening centre covers three small town districts and a part of maternity hospitals in the capital. 5ince 1970 more than 340 000 newborns were screened and 57 HPA are registered. 5ince 1975 43 HPA were diagnosed. 5ince 1975 the total HPA incidence is 1 : 6821 and the incidence of classical PKU is 1: 9461. The incidence of HPA of other types is 1 : 24 441. 5ince 1978 a total of 239 452 pregnant women were screened and 37 HPA were discovered. For the screening paper chromatography is used. The centre organises also screening of rare inherited metabolic diseases.4. Department of Clinical Biochemistry - Ostrava-PorubavThis centre is covering northern Moravia with the HPA screening since February 1,1992. More than 190 000 newborns were screened and 32 various types of HPA were diagnosed (22 classical PKU and 10 HPA). since 1992 the total HPA incidence is 1 : 6021, the incidence of classical PKU is 1 : 8758 and the incidence of HPA of other types 1 : 21409. For screening the Guthrie Test is used.

Key words:
hyperphenylalaninaemia, phenylketonuria, screening, incidence, Czech Republic