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  • Finland is the last country within EU that will start with regular screening of PKU this year, we did send our medical journalist Carl-Olof Börjesson to Finland to interview professor Harri Niinoski, and assistant professor Risto Lapatto


    Professor Harri Niinikoski professor of Nutrition, in Medicine, Department of Pediatrics at the University of Turku, is a pediatric endocrinologist, specialized in childhood nutrition, growth and metabolic diseases. Harri Niinikoski is Secretary of the Finnish Metabolic Club. He also belongs to the postgraduate education section and nutrition section in the Finnish Pediatric Society, – I work 70 percent with research and education and 30 percent as a clinician.

     Screening for inborn errors of metabolism in Finland

    All blood samples are tandem mass spectrometry analysed in Turku. Metabolic diseases are typically hereditary, yet most persons affected by them may seem healthy for days, months, or even years.
    – Inborn errors of metabolism can be divided into various groups, depending on the cause of the disease. The most common are Fatty acid disorders, Amino acid diseases and Urea cycle diseases, says Harri Niinikoski. Certain Thyroid diseases and Adrenal gland diseases are screened as well.
    – Within 12 months from now (February 2016) most Finnish hospitals will have joined the screening program. – We are presently screening for more than 20 inborn errors of metabolism.
    Early diagnosis The earlier the disease is detected, the child is diagnosed and the treatment is started, the better, Harri Niinikoski states.
    – Blood samples are taken 2 – 5 days after birth. A drop of blood from the baby’s heel on a piece of filter paper can simply be sent by mail to Turku University hospital, where screening analysis from all of Finland are made with Tandem mass spectrometry.
    – Finland differs somewhat from Sweden, for example. Five years ago we only had nine PKU patients. Today the number is still below 20. On the contrary the number of LPI patients is around 50, all with the same genetic defect. The total number of LPI cases in the world is no more than 100.

    Metabolic Club

    Every year the Finnish Metabolic Club arranges a two-day conference where pediatricians, nurses and dieticians from all over Finland participate. During the conference lectures and discussions are held, resulting in information distributed to whom it concerns.
    – The Metabolic Club is doing a good job in spreading information about inherited errors of metabolism. Knowledge and awareness of this group of diseases is important, especially in the new situation when the Finnish generic landscape rapidly changes, Harri Niinikoski ends.



    Dr Risto Lapatto, MD, PhD, is a paediatric endocrinologist. He works at the Children’s Hospital, Helsinki University Hospital. Dr Lapatto is the Finnish Corresponding Member of the international Society for the Study of Inborn Errors of Metabolism (SSIEM) and Chairman of the Finnish Metabolic Club with over 100 members. – I am 60 percent clinician, 30 percent teacher and 10 percent researcher.

    At the end of 2016 all Finnish newborn babies will be screened for inborn errors of metabolism.

    Risto Lapatto has been very active in a newly started national screening programme for the detection of inborn errors of metabolism in Finland.
    – At present (February 2016) more than 50 percent of all newborn babies are screened for about 25 diseases. By the end of 2016 we hope to reach 100 percent, he says.
    – Until recently we have mainly been looking for inherited errors of metabolism in certain population groups. The new programme includes all children in all childbirth clinics.
    – The metabolic landscape is rapidly changing in Finland, mainly due to the many immigrants and refugees coming to our country, Risto Lapatto says.
    – We measure chemicals – not patients. The molecular concentrations we are looking for are about the same ones as in Sweden. We get alerts every week; some of them turn out normal in a control sample. Once a month we get a real thing.

    Finland is somewhat different from the other Nordic countries when it comes to inborn metabolic diseases.
    – Phenylketonuria, PKU, is relatively rare in our population. On the other hand we have about half of the global LPI, Lysinuric protein intolerance, cases. This disease was first described by a Finnish group of paediatricians and researchers here at the Children’s Hospital.
    – The screening has brought to light the real frequencies. For instance MCAD, Medium-chain acyl-CoA dehydrogenase, deficiency is still a rare condition in Finland but not as rare as we thought. The ongoing screening programme has revealed more cases than we expected.

    National co-operation
    In Finland 50 – 60 000 babies are born every year.
    –The inherited metabolic patients are identified and treated by Finland’s five university hospitals, all with pediatric specialist care.
    – But parents and patients are free to consult any clinic they like, for example children’s hospital in Helsinki even if they live elsewhere.
    – Doctors, nurses, dieticians and biochemists working with inborn errors of metabolism are a small group in Finland. We all know each other and we try to be helpful. For example, the screening programme was started as a co-operative project between Helsinki and Turku university hospitals.
    – Dieticians play an important role in the therapeutic team. Different inborn errors of metabolism require different dietetic services. There is unfortunately a shortage of dieticians, which can cause problems.
    There are only few doctors in Finland specializing in grown-ups with inborn errors of metabolism. But that doesn’t mean these patients are left adrift.
    – They are welcome to us. Here in the Helsinki Children’s Hospital we have no age limit and the same is true in some other centres as well, says Docent Lapatto.

    It is important to spread knowledge about the inborn errors of metabolism, he stresses.
    – The Finnish Metabolic Club has a mission to increase awareness around theses conditions. We do that through media; medical and popular press, TV and radio. In fact media helped us a lot in the start-up phase to inform public, changing attitudes and erasing biases.
    – We are open with the fact that we cannot take the disease away. The inborn error is for life, but we can make life a lot better for the children and their families.
    – The on-going screening program is “the tip of the iceberg”. We only screen for inborn errors that we can treat and where early treatment makes a difference. This means that we must have the products and methods available that are needed. New products, not yet approved, are available to university clinic doctors. But many diseases are still lacking a good therapy.
    – The snowball is rolling. The inborn errors of metabolism – each one rare but together they make a large number of patients – are now getting better attention and care as well as better understanding and empathy both from the health care system and from the public.

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