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Licensed Unlicensed Requires Authentication Published by De Gruyter April 1, 2020

First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia

  • Linnea Äärelä , Pasi I. Nevalainen , Kalle Kurppa ORCID logo EMAIL logo and Pauliina Hiltunen



Type 1 tyrosinemia is a hereditary metabolic disease in which tyrosine metabolites damage the liver and kidneys. Nitisinone medication revolutionized the treatment, but the effects of the drug during human pregnancy are unknown.

Case presentation

A 17-year-old tyrosinemia patient became pregnant. Nitisinone was continued throughout pregnancy with a varying serum concentration and dose ranging from 0.8 to 1.4 mg/kg/day. Blood tyrosine remained stable until it increased in late pregnancy. α-fetoprotein increased to 284 μg/L without new changes in liver. Urine succinylacetone remained undetectable, but there were signs of possibly reoccurring kidney tubulopathy. Fetal ultrasound monitoring was normal throughout the pregnancy and the newborn healthy. After the delivery, α-fetoprotein normalized, but tyrosine continued to rise for up to 1 year. The child is developing normally.


Pregnancy during nitisinone was successful, but tailoring of the drug dose and possibly reappearing complications, as also increasing serum tyrosine concentration after delivery warranted intensified surveillance.

Corresponding author: Kalle Kurppa, MD, PhD Tampere Center for Child Health Research, Tampere University and Department of Paediatrics, Tampere University Hospital, Tampere, Finland; and University Consortium of Seinäjoki and Department of Paediatrics, Seinäjoki Central Hospital, Seinäjoki, Finland, Phone: +358503186255

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: Äärelä received study grants from the Orion Research Foundation and the Päivikki and Sakari Sohlberg Foundation and Kurppa received grants also from the Sohlberg Foundation and the Foundation of Pediatric Research, otherwise none declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: None declared.

  6. Ethics statements: The study was conducted in accordance with the Helsinki Declaration of 1975 (revised in 2000). Data collection was approved by the Departments of Paediatrics and Internal Medicine in Tampere University Hospital. Patient’s written informed consent for data collection and case publication was obtained. According to our national guidelines, no further ethical approval was needed for this retrospective case report.


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Received: 2019-11-18
Accepted: 2020-02-24
Published Online: 2020-04-01
Published in Print: 2020-05-26

©2020 Walter de Gruyter GmbH, Berlin/Boston

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