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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
ID Šikonja, Jaka (Author), ID Brecelj, Jernej (Author), ID Žerjav-Tanšek, Mojca (Author), ID Repič-Lampret, Barbka (Author), ID Drole Torkar, Ana (Author), ID Klemenčič, Simona (Author), ID Lipovec, Neža (Author), ID Stefanova Kralj, Valentina (Author), ID Bertok, Sara (Author), ID Kovač, Jernej (Author), ID Faganel Kotnik, Barbara (Author), ID Tesařová, Markéta (Author), ID Remec, Žiga Iztok (Author), ID Debeljak, Maruša (Author), ID Battelino, Tadej (Author), ID Grošelj, Urh (Author)

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Abstract
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200–400 μmol/L and >30 μmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levels; on the other hand, tyrosine was elevated only at one. We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine.

Language:English
Keywords:tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variant
Work type:Article
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Publication status:Published
Publication version:Version of Record
Year:2022
Number of pages:7 str.
Numbering:Vol. 30, art. 100836
PID:20.500.12556/RUL-138896 This link opens in a new window
UDC:616-053.2:577.122.5
ISSN on article:2214-4269
DOI:10.1016/j.ymgmr.2021.100836 This link opens in a new window
COBISS.SI-ID:90521859 This link opens in a new window
Publication date in RUL:24.08.2022
Views:676
Downloads:143
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Record is a part of a journal

Title:Molecular genetics and metabolism reports
Publisher:Elsevier
ISSN:2214-4269
COBISS.SI-ID:520387097 This link opens in a new window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

Language:Slovenian
Keywords:pediatrija, tirozenemija, presejalno testiranje

Projects

Funder:ARRS - Slovenian Research Agency
Project number:P3-0343
Name:Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

Funder:ARRS - Slovenian Research Agency
Project number:J4-3606
Name:Vloga humanega mleka v razvoju črevesne mikrobiote dojenčka

Funder:ARRS - Slovenian Research Agency
Project number:L3-8213
Name:Prehrana otrok in odraslih kot zaščitni dejavnik ali dejavnik zdravstvenih tveganj

Funder:ARRS - Slovenian Research Agency
Project number:L3-7538
Name:Transmaščobe v živilih in njihov populacijski vnos - implikacije za javno zdravje

Funder:ARRS - Slovenian Research Agency
Project number:P3-0395
Name:Prehrana in javno zdravje

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