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Neonatal screening for inborn errors of metabolism in Switzerland
Screening, 1 (1992) 249-25 1 0 1992 Elsevier Science Publishers
SCREEN
249 B.V. All rights reserved
09256164/92/$5.00
0030
Neo:natal screening for inborn errors of metabolism in Switzerland J.P. Colombo Department of Clinical Chemistry, Inselspital, University of Berne. Beme, Switzerland (Accepted
Key wortls: Screening;
Metabolic
20 August
1992)
error
Neonatal screening for inborn errors of metabolism in Switzerland began in 1965 at the Children’s Hospital in Zurich with screening for phenylketonuria (PKU) by assaying for phenylalanine on dried spots of blood. In 1967, this screening was also initiated at the Central Laboratory of the Swiss Red Cross in Berne. The program then rapidly expanded. Screening for maple syrup disease (MSUD) by the Guthrie leucine assay, for homocystinuria by the Guthrie methionine assay, and for galactosemia with first the galactose assay (modified Guthrie test according to Paigen) and then for galactose-l-phosphate uridyltransferase activity (Beutler and Baluda) were added. Over the years some modifications of the program occurred: in 1973, the enzyme fluorimetric test according to Wiedemann that measures galactose was introduced in Berne for galactosemia screening and in 1974 TSH screening by RIA for congenital hypothyroidism (CH) was begun. In 1986, the enzyme immunoassay (Delfia) became the method for CH screening. Histidinemia screening with the Guthrie histidine assay was conducted as a pilot study for one year but a low prevalence, inadequate treatment and the large number of untreated cases described with normal development prompted abandonment of this screening. In 198 1 methionine screening was also abandoned, since no case of homocystinuria was identified during the 16 year screening period. However, four cases of hypermethioninemia, among them patients with fructose intolerance, were discovered with this screening. Biotinidase screening was added 1986. In 1987 leucine screening was also stopped, due to the low prevalance of MSUD and the fact that screening specimens collected on day 4 might be too late for the very early newborn diagnosis required in this Correspondence to: Prof. J.P. Colombo, Berne, Berne, Switzerland.
Department
of Clinical
Chemistry,
Inselspital,
University
of
250
disease. This has been replaced by the education of practicing pediatricians in our country that has made them aware of the symptomatology of ‘metabolic crisis in the newborn’. Thus, affected babies are quickly referred to the University Hospitals. Table 1 provides the most recent list of newborn screening in Switzerland and the total number of infants tested. Table 2 provides the incidences of the different disorders. Screening in Switzerland is currently performed in two centers, Zurich and Berne. Each covers one-half of the country. The dried blood screening specimen is collected
TABLE
1
Number
of routinely
screened
newborns
in Switzerland
Parameter
Total
1991
Phenylalanine (Guthrie) Gal-l-P uridyltransferase (Beutler Galactose (Paigen/Guthrie) Galactose (Weidemann) TSH (DELFIA) Biotinidase (Wolf) Leucine Methionine
TABLE
2
Number
of identified
cases in the Swiss screening
2,012,322 1,843,699 948,029 156,628 1,161,027 423,663 1,569,456 1,012,865
88,902 88,902 42,883 46,019 88,902 88,902 _ _
and Baluda)
1965-1991
program
Parameter
1991
1965-1991
Phenylketonuria Other hyperphenylalaninemias** Galactosemia (Gal-l-P uridyltransferase
5 4 2 28 1 2 23 1 2
107 129 36 323 1 13 307 4 6
Galactokinase deficiency UDP-Gal-Cepimerase deficiency Primary hypothyroidism Biotinidase deficiency
1965-1989 Hypermethioninemia
4, Homocystinuria
deficiency)
total partial
total partial
Incidence* 1 19,000 1 16,000 1 51,000
0, Maple syrup urine disease and Hyperleucinemia
*Based on the total number of screened infants in Table I. **With or without treatment. Screening laboratories in Switzerland: _ Children’s University Hospital, Zurich, Prof. R. Gitzelmann. - Central Laboratory of the Swiss Red Cross, Beme, Dr. J.J. Burckhardt.
1,OOo,oOO 131,000 4,000 106,000 71,000
11
251
on the fourth (4th) day. When a result is positive, the screening laboratory contacts the family doctor/obstetrician, midwife and the pediatrician responsible for metabolic disorders at the University Hospital nearest to the patient. The baby is then referred to the metabolic ward of that hospital. The program covers all babies born in our country. The screening is not compulsory by law, but is functioning on a pure facultative basis.
SCREEN
249 B.V. All rights reserved
09256164/92/$5.00
0030
Neo:natal screening for inborn errors of metabolism in Switzerland J.P. Colombo Department of Clinical Chemistry, Inselspital, University of Berne. Beme, Switzerland (Accepted
Key wortls: Screening;
Metabolic
20 August
1992)
error
Neonatal screening for inborn errors of metabolism in Switzerland began in 1965 at the Children’s Hospital in Zurich with screening for phenylketonuria (PKU) by assaying for phenylalanine on dried spots of blood. In 1967, this screening was also initiated at the Central Laboratory of the Swiss Red Cross in Berne. The program then rapidly expanded. Screening for maple syrup disease (MSUD) by the Guthrie leucine assay, for homocystinuria by the Guthrie methionine assay, and for galactosemia with first the galactose assay (modified Guthrie test according to Paigen) and then for galactose-l-phosphate uridyltransferase activity (Beutler and Baluda) were added. Over the years some modifications of the program occurred: in 1973, the enzyme fluorimetric test according to Wiedemann that measures galactose was introduced in Berne for galactosemia screening and in 1974 TSH screening by RIA for congenital hypothyroidism (CH) was begun. In 1986, the enzyme immunoassay (Delfia) became the method for CH screening. Histidinemia screening with the Guthrie histidine assay was conducted as a pilot study for one year but a low prevalence, inadequate treatment and the large number of untreated cases described with normal development prompted abandonment of this screening. In 198 1 methionine screening was also abandoned, since no case of homocystinuria was identified during the 16 year screening period. However, four cases of hypermethioninemia, among them patients with fructose intolerance, were discovered with this screening. Biotinidase screening was added 1986. In 1987 leucine screening was also stopped, due to the low prevalance of MSUD and the fact that screening specimens collected on day 4 might be too late for the very early newborn diagnosis required in this Correspondence to: Prof. J.P. Colombo, Berne, Berne, Switzerland.
Department
of Clinical
Chemistry,
Inselspital,
University
of
250
disease. This has been replaced by the education of practicing pediatricians in our country that has made them aware of the symptomatology of ‘metabolic crisis in the newborn’. Thus, affected babies are quickly referred to the University Hospitals. Table 1 provides the most recent list of newborn screening in Switzerland and the total number of infants tested. Table 2 provides the incidences of the different disorders. Screening in Switzerland is currently performed in two centers, Zurich and Berne. Each covers one-half of the country. The dried blood screening specimen is collected
TABLE
1
Number
of routinely
screened
newborns
in Switzerland
Parameter
Total
1991
Phenylalanine (Guthrie) Gal-l-P uridyltransferase (Beutler Galactose (Paigen/Guthrie) Galactose (Weidemann) TSH (DELFIA) Biotinidase (Wolf) Leucine Methionine
TABLE
2
Number
of identified
cases in the Swiss screening
2,012,322 1,843,699 948,029 156,628 1,161,027 423,663 1,569,456 1,012,865
88,902 88,902 42,883 46,019 88,902 88,902 _ _
and Baluda)
1965-1991
program
Parameter
1991
1965-1991
Phenylketonuria Other hyperphenylalaninemias** Galactosemia (Gal-l-P uridyltransferase
5 4 2 28 1 2 23 1 2
107 129 36 323 1 13 307 4 6
Galactokinase deficiency UDP-Gal-Cepimerase deficiency Primary hypothyroidism Biotinidase deficiency
1965-1989 Hypermethioninemia
4, Homocystinuria
deficiency)
total partial
total partial
Incidence* 1 19,000 1 16,000 1 51,000
0, Maple syrup urine disease and Hyperleucinemia
*Based on the total number of screened infants in Table I. **With or without treatment. Screening laboratories in Switzerland: _ Children’s University Hospital, Zurich, Prof. R. Gitzelmann. - Central Laboratory of the Swiss Red Cross, Beme, Dr. J.J. Burckhardt.
1,OOo,oOO 131,000 4,000 106,000 71,000
11
251
on the fourth (4th) day. When a result is positive, the screening laboratory contacts the family doctor/obstetrician, midwife and the pediatrician responsible for metabolic disorders at the University Hospital nearest to the patient. The baby is then referred to the metabolic ward of that hospital. The program covers all babies born in our country. The screening is not compulsory by law, but is functioning on a pure facultative basis.