Inborn errors of metabolism – background and the Saske Screening Center

Screening for inborn errors of metabolism started in the US in the 1960’s by screening of newborn infants for phenylketonuria (PKU).

In Finland, the only metabolic disease screened for comprehensively in the whole country has been hypothyroidism. Screening for hypothyroidism among newborn babies was started in the 1970’s and is done by taking a blood sample from the umbilical cord. This method has guaranteed normal development of numerous children with inborn hypothyroidism. Screening for other metabolic disease requires that the metabolism of the newborn has come up to speed, and this takes a minimum of two days (48 hours). Then the screening blood sample may be taken by a minute puncture of the skin of the baby’s heel.

In 2001, we took the initiative within the Turku University Hospital to establish whether it would be useful to broaden the number of diseases (in addition to hypothyroidism) to be screened for among newborns in Finland. In 2007 – 2013 the university hospital thus carried out a large pilot study (the NeoPilot study) on screening for inborn errors of metabolism among newborns. The number of voluntary families who participated in the study was about 20,000. The outcome of the NeoPilot study was that there are indeed screenable and treatable inborn errors of metabolism in the Finnish population. On the basis of the NeoPilot study results it could be concluded that families had an extremely positive attitude toward screening and that it was possible to organize the screening in Finland.

On April 7, 2014 the Ministry of Social Affairs and Health of Finland sent a letter to the hospital districts and municipalities on the topic of screening for inborn errors of metabolism in the whole of Finland. The Ministry of Social Affairs and Health recommends that screening for five inborn errors of metabolism (CAH, MCAD, LCHAD, GA 1 and PKU) be offered for all who are born in Finland as of 2015. Screening for congenital hypothyroidism continues as before.

In the summer of 2014, the Saske Screening Center was founded by the Turku University Hospital to screen for inborn errors of metabolism. Saske comes from Synnynnäisten aineenvaihduntasairauksien seulontakeskus (Screening Center for Inborn Errors of Metabolism). The Saske Screening Center is currently the only laboratory in Finland that screens for all diseases recommended by the Ministry of Social Affairs and Health as well as 17 diseases in addition to that. By the autumn of 2014, the Saske Screening Center examined a notable proportion of all screening samples for metabolic diseases of newborn babies in Finland. By 2017, almost all screening samples collected from newborn babies born in Finland will be examined at the Saske Screening Center.

March 2016

Ilkka Mononen
Chief physician, Professor, Director
The Saske Screening Center, Turku University Hospital

 Ilkka Mononen

Päivitetty: 13/09/2019 12:02