scholarly journals Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

2017 ◽  
pp. 97-103 ◽  
Author(s):  
Helen Walker ◽  
Mervi Pitkanen ◽  
Yusof Rahman ◽  
Sally F. Barrington
Keyword(s):  
Brain Imaging ◽  
Tyrosinaemia Type ◽  
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.

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

1997 ◽  
Vol 17 (10) ◽  
pp. 964-966 ◽  
Author(s):  
Aki Mustonen ◽  
Hans Kristian Ploos Van Amstel ◽  
Ruud Berger ◽  
Matti K. Salo ◽  
Lasse Viinikka ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

2011 ◽  
Vol 53 (10) ◽  
pp. 962-964 ◽  
Author(s):  
Corinne De Laet ◽  
Vanessa Terrones Munoz ◽  
Jaak Jaeken ◽  
Baudouin François ◽  
Dietbrandt Carton ◽  
...  
Keyword(s):  
Neuropsychological Outcome ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1
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