Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom

2017 ◽  
pp. 85-91 ◽  
Author(s):  
Patrick McKiernan
Keyword(s):  
Liver Transplantation ◽  
United Kingdom ◽  
Tyrosinaemia Type ◽  
The United Kingdom ◽  
Tyrosinaemia Type 1

Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 – A UK centre experience

2020 ◽  
Vol 57 (6) ◽  
pp. 412-419
Author(s):  
Mildrid Yeo ◽  
Charles Turner ◽  
Neil R Dalton ◽  
Yusof Rahman ◽  
Roshni Vara
Keyword(s):  
Dried Blood Spot ◽  
Tyrosinaemia Type ◽  
Once Daily ◽  
Clinical Utilization ◽  
The United Kingdom ◽  
Dosing Regimens ◽  
Treatment Plans ◽  
Tyrosinaemia Type 1 ◽  
Blood Spot

Background Dried blood spot monitoring of nitisinone and succinylacetone in hereditary tyrosinaemia type 1 patients is not widely available in the United Kingdom. Currently, biochemical monitoring utilizes urinary succinylacetone, blood spot tyrosine and phenylalanine monitoring, which can lack in convenience and accuracy, respectively. Methods We report the development of a dried blood spot assay for nitisinone and succinylacetone and analysed retrospective clinical and biochemical data for hereditary tyrosinaemia type 1 patients from a single UK centre. Results A total of 13 hereditary tyrosinaemia type 1 patients were evaluated. Eleven presented with liver dysfunction (two with associated renal tubulopathy) and two were detected by early sibling screening. All patients (age 0.03–22 months) were commenced on a tyrosine-/phenylalanine-restricted diet and nitisinone at diagnosis. Ten patients were on twice daily dosing and three were on single daily dosing at the start of monitoring. One patient from each dosing group swapped between dosing regimens at 20 years of age and 8 months of age, respectively. A total of 684 dried blood spot samples were analysed; 80% of nitisinone concentrations were between 9.2 and 27  µmol/L when succinylacetone was <0.3  µmol/L. Patients on twice daily dosing regimens had significantly higher nitisinone concentration compared with those on once daily dosing ( P < 0.0001). The median dose required in the twice daily doing group was significantly lower when compared with once daily dosing. Conclusions Dried blood spot monitoring for nitisinone and succinylacetone concentrations in hereditary tyrosinaemia type 1 patients is a rapid and convenient method which allows physicians to individualize treatment plans and observe adherence to treatment.

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

2012 ◽  
Vol 36 (1) ◽  
pp. 15-20 ◽  
Author(s):  
David C. Bartlett ◽  
Mary Anne Preece ◽  
Elisabeth Holme ◽  
Carla Lloyd ◽  
Phil N. Newsome ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

Liver transplantation in tyrosinaemia type 1: the dilemma of timing the operation

1992 ◽  
Vol 81 (5) ◽  
pp. 449-452 ◽  
Author(s):  
A Salt ◽  
ND Barnes ◽  
K Rolles ◽  
RY Calne ◽  
PT Clayton ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

Indications and outcome of liver transplantation in tyrosinaemia type 1

1999 ◽  
Vol 158 (S2) ◽  
pp. S049-S054 ◽  
Author(s):  
N. Mohan ◽  
P. McKiernan ◽  
D. A. Kelly ◽  
M. A. Preece ◽  
A. Green ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1
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