Diagnosing congenital metabolic disorders in newborns improved in Estonia | Faculty of Science and Technology, University of Tartu

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Contacts of UT units

Faculty of Arts and Humanities
Faculty phone: 
+372 737 5341
Faculty address: 
Jakobi 2, rooms 116–121, 51005 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5341
    Faculty address: 
    Jakobi 2, rooms 116–121, 51005 Tartu
  • Institute of History and Archaeology
    Faculty phone: 
    +372 737 5651
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Estonian and General Linguistics
    Faculty phone: 
    +372 737 5221
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Philosophy and Semiotics
    Faculty phone: 
    +372 737 5314
    Faculty address: 
    Jakobi 2, rooms 309–352, 51005 Tartu
  • Institute of Cultural Research
    Faculty phone: 
    (+372) 737 5223
    Faculty address: 
    Ülikooli 16, 51003 Tartu
  • School of Theology and Religious Studies
    Faculty phone: 
    +372 737 5301
    Faculty address: 
    Ülikooli 18–310, 50090 Tartu
  • College of Foreign Languages and Cultures
    Faculty address: 
    Lossi 3, 51003 Tartu
  • Viljandi Culture Academy
    Faculty phone: 
    +372 435 5232
    Faculty address: 
    Posti 1, 71004 Viljandi
Faculty of Social Sciences
Faculty phone: 
+372 737 5957
Faculty address: 
Lossi 36, 51003 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5900
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Institute of Education
    Faculty phone: 
    +372 737 6440
    Faculty address: 
    Salme 1a–29, 50103 Tartu
  • Johan Skytte Institute of Political Studies
    Faculty phone: 
    +372 737 5582
    Faculty address: 
    Lossi 36–301, 51003 Tartu
  • School of Economics and Business Administration
    Faculty phone: 
    +372 737 6310
    Faculty address: 
    J. Liivi 4, 50409 Tartu
  • Institute of Psychology
    Faculty phone: 
    +372 737 5902
    Faculty address: 
    Näituse 2, 50409 Tartu
  • School of Law
    Faculty phone: 
    +372 737 5390
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    Näituse 20–324, 50409 Tartu
  • Institute of Social Studies
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    +372 737 5188
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Narva College
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    +372 740 1900
    Faculty address: 
    Raekoja plats 2, 20307 Narva
  • Pärnu College
    Faculty phone: 
    +372 445 0520
    Faculty address: 
    Ringi 35, 80012 Pärnu
Faculty of Medicine
Faculty phone: 
+372 737 5326
Faculty address: 
Ravila 19, 50411 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5326
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Biomedicine and Translational Medicine
    Faculty phone: 
    +372 737 4210
    Faculty address: 
    Biomeedikum, Ravila 19, 50411 Tartu
  • Institute of Pharmacy
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    +372 737 5286
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Dentistry
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    +372 731 9856
    Faculty address: 
    Raekoja plats 6, 51003 Tartu
  • Institute of Clinical Medicine
    Faculty phone: 
    +372 737 5323
    Faculty address: 
    L. Puusepa 8, 50406 Tartu
  • Institute of Family Medicine and Public Health
    Faculty phone: 
    +372 737 4190
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Sport Sciences and Physiotherapy
    Faculty phone: 
    +372 737 5360
    Faculty address: 
    Jakobi 5–205, 51005 Tartu
Faculty of Science and Technology
Faculty phone: 
+372 737 5820
Faculty address: 
Vanemuise 46–208, 51014 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5820
    Faculty address: 
    Vanemuise 46–208, 51005 Tartu
  • Institute of Computer Science
    Faculty phone: 
    +372 737 5445
    Faculty address: 
    J. Liivi 2, 50409 Tartu
  • Estonian Marine Institute
    Faculty phone: 
    +372 671 8902
    Faculty address: 
    Mäealuse 14, 12618 Tallinn
  • Institute of Physics
    Faculty address: 
    W. Ostwaldi 1, 50411 Tartu
  • Institute of Chemistry
    Faculty phone: 
    +372 737 5261
    Faculty address: 
    Ravila 14a, 50411 Tartu
  • Institute of Mathematics and Statistics
    Faculty phone: 
    +372 737 5860
    Faculty address: 
    J. Liivi 2, 50409 Tartu
  • Institute of Molecular and Cell Biology
    Faculty phone: 
    +372 737 5011
    Faculty address: 
    Riia 23, 23b–134, 51010 Tartu
  • Tartu Observatory
    Faculty phone: 
    +372 737 4510
    Faculty address: 
    Observatooriumi 1, Tõravere, 61602 Tartumaa
  • Institute of Technology
    Faculty phone: 
    +372 737 4800
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Ecology and Earth Sciences
    Faculty phone: 
    +372 737 5835
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Institutions
  • Library
    Faculty phone: 
    +372 737 5702
    Faculty address: 
    W. Struve 1, 50091 Tartu
  • Youth Academy
    Faculty phone: 
    +372 737 5581
    Faculty address: 
    Uppsala 10, 51003 Tartu
  • Institute of Genomics
    Faculty phone: 
    +372 737 4000
    Faculty address: 
    Riia 23b, 51010 Tartu
  • Museum
    Faculty phone: 
    +372 737 5674
    Faculty address: 
    Lossi 25, 51003 Tartu
  • University of Tartu Natural History Museum and Botanical Garden
    Faculty phone: 
    +372 737 6076
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Support Units
  • Administrative Office
    Faculty phone: 
    +372 737 5606
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Centre for Entrepreneurship and Innovation
    Faculty phone: 
    +372 737 6339
    Faculty address: 
    Lossi 3, III floor, 51003 Tartu
  • University Office in Tallinn
    Faculty phone: 
    +372 737 6600
    Faculty address: 
    Teatri väljak 3, 10143 Tallinn
  • Estates Office
    Faculty phone: 
    +372 737 5137
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Finance Office
    Faculty phone: 
    +372 737 5125
    Faculty address: 
    Jakobi 4, 51005 Tartu
  • Grant Office
    Faculty phone: 
    +372 737 6215
    Faculty address: 
    Lossi 3, III floor, 51003 Tartu
  • Information Technology Office
    Faculty phone: 
    +372 737 6000, IT-help: +372 737 5500
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Human Resources Office
    Faculty phone: 
    +372 737 5145
    Faculty address: 
    Ülikooli 18, rooms 302 and 304, 50090 Tartu
  • Internal Audit Office
    Faculty address: 
    Ülikooli 17–103, 51005 Tartu
  • Marketing and Communication Office
    Faculty phone: 
    +372 737 5687
    Faculty address: 
    Ülikooli 18, rooms 102, 104, 209, 210, 50090 Tartu
  • Office of Academic Affairs
    Faculty phone: 
    +372 737 5620
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Procurement Office
    Faculty phone: 
    +372 737 6632
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Rector's Strategy Office
    Faculty phone: 
    +372 737 5600
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Student Council
    Faculty phone: 
    +372 737 5400
    Faculty address: 
    Ülikooli 18b, 51005 Tartu
Other Units
  • University of Tartu Academic Sports Club
    Faculty phone: 
    +372 737 5371
    Faculty address: 
    Ujula 4, 51008 Tartu
  • Tartu Student Village
    Faculty phone: 
    +372 740 9959
    Faculty address: 
    Narva mnt 25, 51013 Tartu
  • Tartu Students’ Club
    Faculty phone: 
    +372 730 2400
    Faculty address: 
    Kalevi 24, 51010 Tartu
  • University of Tartu Press
    Faculty phone: 
    +372 737 5945
    Faculty address: 
    W. Struve 1, 50091 Tartu
  • Tartu University Hospital
    Faculty address: 
    L. Puusepa 1a, 50406 Tartu
  • University of Tartu Foundation
    Faculty phone: 
    +372 737 5852
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • View all other units

Diagnosing congenital metabolic disorders in newborns improved in Estonia

Picture of an infant. Photo: Pixabay.

A new diagnostic method that is most suitable for Estonia was developed at the University of Tartu, which helps detect congenital metabolic disorders earlier and more effectively than before. The new method also helps discover more diseases in newborns with one screening.

The newborn screening for congenital metabolic diseases in Estonia was outdated and the 20-year-old system needed updating.

In most of the western European countries and in the United States of America, a screening method that allows to identify about 30 different metabolic disorders with one screening has already been used for a long time. At the same time, Estonia was still using a method that allowed to identify only one disease at a time, and two different methods had to be applied for diagnosing two diseases.

This situation was solved by Karit Reinson who defended her doctoral thesis at the University of Tartu Institute of Clinical Medicine. She developed and implemented an expanded newborn screening method most suitable for Estonia. This single analysis cycle helps identify 19 different congenital metabolic disorders.

Expanded screening

Hereditary metabolic diseases are disorders of the biochemical balance in the organism caused by variations or errors in one gene. As a result of such diseases, many vital functions in the body may be impaired and cause acute or chronic organ failure, severe mental retardation, life-threatening conditions and premature death.

“Even though it is a congenital disease, the symptoms indicating metabolic disorders are not evident in most children at birth”, said Karit Reinson.

During pregnancy, the mother’s organism compensates for any deficiencies in the foetus’s metabolism via the placenta, and therefore, symptoms characteristic to the disorder gradually start appearing only after birth. These are often irreversible and cause significant mental retardation and shorten life expectancy.

“That’s why it is very important to diagnose treatable hereditary metabolic diseases early. That way, it is possible to provide early relevant counselling for the family and treatment for the child,” added Reinson.

“Also, it is possible to avoid the birth of any new children carrying the disease into the family, because with the right diagnosis, we can offer prenatal diagnostics. The risk for repeating hereditary metabolic disorders in the family is often 25%, despite both of the parents being completely healthy and having no known chronic diseases with childhood onset in the family.”

The newly graduated doctor explained that newborn screening programmes have been continually altered and developed to be able to discover treatable metabolic disorders when no symptoms are visible yet. This is what Karit Reinson did together with her supervisor, professor Katrin Õunap, and on 1 January 2014, expanded newborn screening began in Estonia.

“For the first 12 months, it was conducted as a pilot project, during which we screened 13,643 newborns. During this period, the parents of 49 (i.e., 0.36%) children declined the screening,” said Reinson.

Since 2015, the expanded newborn screening is in the list of services financed by the Estonian Health Insurance Fund. With the help of her colleagues, Reinson has screened 54,899 newborns in four years (2014–2017).

For this, all newborns had capillary blood drawn from the heel onto a filter paper between the 3rd and 5th day of life, which was dried and sent to the only laboratory in Estonia conducting the expanded newborn screening. This lab is located at the Tartu University Hospital Unified Centre of Laboratories Department of Clinical Genetics.

Most common metabolic disorders

“During four years, we have identified a congenital metabolic disorder in 29 newborns. Therefore, the prevalence of the studied disorders in Estonia is 1:1,893,” said Reinson sharing new knowledge. “By now, all of the children have received necessary treatment, lack complaints referring to congenital metabolic disorders and their development is age appropriate.”

The most commonly diagnosed condition in newborns was vitamin B12 deficiency with a prevalence of 1:2,959. “This was unexpected, as vitamin B12 deficiency has never been diagnosed to this extent in newborns. There are few related international publications and the results described in them are rather modest.”

Vitamin B12 is a simple compound, which plays an important part in haemotopoiesis, in the cell renewal process, as well as in the development of the nervous system. Vitamin B12 deficiency is often expressed in the newborn as restlessness, sleep disorders, excessive increase or decrease in muscle tone, developmental delay and, in the worst-case scenario, as a seizure disorder.

Vitamin B12 deficiency in newborns is often caused by low levels of vitamin B12 in the mother’s organism, which indicates insufficient intake of meat during pregnancy and/or B12 malabsorption. Thus, the newborn does not get a sufficient vitamin stock for the first six months of life until they start eating meat themselves. Breast milk does not contain enough vitamin B12 necessary for the growth and development of a newborn either. Thus, in the first months of life, the B12 deficiency gets worse and symptoms indicating the deficiency start appearing.

“That’s why we have always emphasised to family physicians and paediatricians that if they suspect vitamin B12 deficiency in a newborn, it should always be checked with a blood test because treatment is simple and available and the child’s development may gain great advantage from it,” said Reinson. “As mentioned, a blood spot is taken between the 3rd and 5th day of life for screening, but this does not guarantee that the child’s vitamin B12 stores will not start declining at one month and that a deficiency with accompanying complaints will not develop by the third month.”

The second most prevalent group was composed of patients with hyperphenylalaninemia. Considering previous studies involving the Estonian population, this result was predictable for the researchers.

Hyperphenylalaninemias are hereditary metabolic disorders, which disable the body’s ability to break down phenylalanine – an amino acid that is a normal component of a natural protein. Its accumulation in the organism often causes severe mental retardation, but with early diagnosis, these diseases are treatable and the child’s development is normal.

In treated cases, patients with phenylketonuria attend normal schools and study under normal study programmes, and even graduate from higher education institutions if they wish. They have no restrictions in life but to avoid eating excessive natural proteins every day (incl. meat, eggs, milk and fish) and replace them with a special protein mix.

Karit Reinson defended her doctoral degree at the University of Tartu with her thesis “New Diagnostic Methods for Early Detection of Inborn Errors of Metabolism in Estonia” on 18 December 2018. She was supervised by a professor of clinical genetics at the UT, Katrin Õunap; her opponent was professor Kari Pulkki from Turku University Hospital.

The translation of this article from Estonian Public Broadcasting science news portal Novaator was funded by the European Regional Development Fund through Estonian Research Council. Source: http://researchinestonia.eu/

Sandra Sommer
Press Officer
tel +372 737 5681
mob +372 5307 7820
sandra.sommer [ät] ut.ee
www.ut.ee/en

 

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