Published studies

Liver cancer in a Tyrosinemia type 1 patient without increase in blood AFP concentrations

Publication: March 2015 in Pediatrics
Article: Liver cancer in a Tyrosinemia type 1 patient without increase in blood AFP concentrations.
Authors: WG van Ginkel, AS Gouw, EJ van der Jagt, KP de Jong, HJ Verkade, FJ van Spronsen
Contact: Wiggert van Ginkel
Link to article: Pediatrics

Liver cancer was very common before Tyrosinemia type 1 patients were treated with the drug NTBC. The risk of liver cancer formation decreased tremendously after the introduction of NTBC, especially if NTBC treatment was initiated early and if alfa-1-foetoproteine (or AFP in short) concentrations quickly decrease to normal concentrations.

Continue reading this published study about liver cancer in a Tyrosinemia type 1 patient without increase in blood AFP concentrations

 


Should extra phenylalanine be given to children with Tyrosinemia type 1?

Published: September 2015 in Journal of Inherited Metabolic Diseases Reports
Article: Should extra phenylalanine be given to children with Tyrosinemia type 1?
Authors: D van Vliet, E van Dam, M van Rijn, TG Derks, G Venema-Liefaard, MM Hitzert, RJ Lunsing, MR Heiner-Fokkema, FJ van Spronsen
Contact: Danique van Vliet
Link to article: ncbi.nlm.nih.gov

This article describes 2 patients with Tyrosinemia type 1 who were treated with NTBC and diet shortly after birth. Patient 1 developed growth retardation, developmental delay and eczema. With the NTBC and dietary treatment, tyrosine concentrations were usually within the treatment range, but phenylalanine concentrations were sometimes severely low.

Continue reading if extra phenylalanine should be given to children with Tyrosinemia type 1

 


First results of the research project investigating the cognitive development of patients with Tyrosinemia type 1

Published: June 2016 in Orphanet Journal of Rare Diseases
Article: First results of the research project investigating the cognitive development of patients with Tyrosinemia type 1
Authors: WG van Ginkel, R Jahja, SC Huijbregts, A Daly, A MacDonald, C de Laet, D Cassiman, F Eyskens, IM Körver-Keularts, PJ Goyens, PJ McKiernan, FJ van Spronsen
Contact: Wiggert van Ginkel/Rianne Jahja
Funding:
Link to article: ncbi.nlm.nih.gov

Some years ago, there were questions on whether Tyrosinemia patients had impaired cognition. This was not restriced just to IQ. Other brain functions might have been impaired as well. Because of these issues, we started a large research project in many European countries investigating a wide range of brain functions and behaviour in Tyrosinemia type 1 patients. This was partly financed and made possible by the Tyrosinemia Foundation (previously known as Stichting Joris). In this first article, we tried to show all clinicians our results to make them aware of the importance of this issue.

Continue reading about the first results of the research project investigating the cognitive development of patients with Tyrosinemia type 1

 


Daily variation of blood phenylalanine and tyrosine in Tyrosinemia type 1 patients without extra phenylalanine

Published: Januari 2017 in JIMD Reports
Article: Daily variation of blood phenylalanine and tyrosine in Tyrosinemia type 1 patients without extra phenylalanine
Authors: E van Dam, G Venema-Liefaard, M van Rijn, A MacDonald, MR Heiner-Fokkema, FJ van Spronsen
Contact: Esther van Dam
Funding:
Link to article: ncbi.nlm.nih.gov

Nowadays, most patients perform fingerstick bloodspots at home. Usually we ask patients to do this in the morning. We did not know if there was some variation in phenylalanine and tyrosine concentrations during the day. This was done based on experience with other metabolic disease in which phenylalanine and tyrosine play a role.

Continue reading about daily variation of blood phenylalanine and tyrosine in Tyrosinemia type 1 patients without extra phenylalanine

 


Transport of amino acids (including tyrosine and phenylalanine) from blood to brain

Published: September 2017 in Plos One
Article: Transport of amino acids (including tyrosine and phenylalanine) from blood to brain
Authors: WG van Ginkel, D van Vliet, JGM Burgerhof, P de Blaauw, ME Rubio-Gozalbo, MR Heiner-Fokkema, FJ van Spronsen
Contact: Wiggert van Ginkel
Link to article: ncbi.nlm.nih.gov

It is currently unknown why the IQ of Tyrosinemia type 1 patients is lower when compared to healthy control participants. Som theories exist. It has been hypothesized that increased tyrosine concentrations and/or decreased phenylalanine concentrations could lead to changes in brain function.

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Daily variation of blood NTBC concentrations and formation of succinylacetone

Published: November 2017 in Journal of Inherited Metabolic Diseases
Article: Daily variation of blood NTBC concentrations and formation of succinylacetone
Authors: NS Kienstra, HE van Reemst, WG van Ginkel, A Daly, A MacDonald, JGM Burgerhof, P de Blaauw, PJ McKiernan, MR Heiner-Fokkema, FJ van Spronsen
Contact: Nienke Kienstra en Hannah van Reemst
Funding: 
Link to article: ncbi.nlm.nih.gov

Aside from tyrosine and phenylalanine, the previously mentioned study of van Dam et al also included measurements of blood NTBC and succinylacetone concentrations. NTBC is a drug that blocks the tyrosine degradation and thus prevents the formation of toxic metabolites such as succinylacetone.

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