Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Thomas Zöggeler ◽  
Gabriele Ramoser ◽  
Alexander Höller ◽  
Monika Jörg-Streller ◽  
Nils Janzen ◽  
...  
Keyword(s):  
Case Report ◽  
Initial Increase ◽  
Blood Concentrations ◽  
Tyrosinaemia Type ◽  
Case Presentation ◽  
Tyrosine Metabolism ◽  
Age Appropriate ◽  
Tyrosinaemia Type 1 ◽  
Tyrosinemia Type 1

Abstract Objectives Tyrosinaemia type 1, an inherited disorder of tyrosine metabolism, is usually treated with a tyrosine-defined diet and since 2000 with nitisinone. So far, data about effects of nitisone during pregnancy and breastfeeding are rare. This is the first report of two pregnancies in a patient with tyrosinaemia type 1 while under treatment with nitisinone. Case presentation We here present a 20-year-old female patient with tyrisonemia type 1 receiving treatment with nitisinone and a tyrosine-defined diet since she was diagnosed with tyrosinaemia type 1 at the age of 18 months. During two pregnancies blood concentrations of tyrosine, succinylacetone and nitisinone were measured regularly. Neither infant has tyrosinaemia type 1 and both showed an initial increase in concentrations of tyrosine, succinylacetone and nitisinone. All three metabolites dropped within two weeks after birth. Both were exclusively breastfed for about two weeks. Both children show age-appropriate physical and mental development. Conclusions Nitisinone therapy during pregnancy and the short breastfeeding period did not result in adverse events in our patient or her children. Regular assessments of tyrosine, succinylacetone and nitisinone should be made during pregnancy and the breastfeeding period in both the mother and the infant. For better understanding, in principle, all cases of pregnancy and breastfeeding with tyrosinemia type 1 should be assessed and followed to further evaluate the implications of tyrosinaemia type 1 and its treatment during pregnancy. Additionally, even though experience with breastfeeding is limited, medication with nitisinone is safe and there is no reason to consider breastfeeding unsafe or to not recommend it.

scholarly journals Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

Nutrients ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 134
Author(s):  
Friederike Bärhold ◽  
Uta Meyer ◽  
Anne-Kathrin Neugebauer ◽  
Eva Maria Thimm ◽  
Dinah Lier ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Protein Intake ◽  
Protein Diet ◽  
Dietary Recommendations ◽  
Blood Concentrations ◽  
Tyrosinaemia Type ◽  
Natural Protein ◽  
Low Protein ◽  
Tyrosinaemia Type 1

Background: Tyrosinaemia type 1 is a rare inherited metabolic disease caused by an enzyme defect in the tyrosine degradation pathway. It is treated using nitisinone and a low-protein diet. In a workshop in 2013, a group of nutritional specialists from Germany, Switzerland and Austria agreed to advocate a simplified low-protein diet and to allow more natural protein intake in patients with tyrosinaemia type 1. This retrospective study evaluates the recommendations made at different treatment centers and their impact on clinical symptoms and metabolic control. Methods: For this multicenter study, questionnaires were sent to nine participating treatment centers to collect data on the general therapeutic approach and data of 47 individual patients treated by those centers. Results: Dietary simplification allocating food to 3 categories led to increased tyrosine and phenylalanine blood concentrations without weighing food. Phenylalanine levels were significantly higher in comparison to a strict dietary regimen whereas tyrosine levels in plasma did not change. Non-inferiority was shown for the simplification and liberalization of the diet. Compliance with dietary recommendations was higher using the simplified diet in comparison to the stricter approach. Age correlates negatively with compliance. Conclusions: Simplification of the diet with increased natural protein intake based on three categories of food may be implemented in the diet of patients with tyrosinaemia type 1 without significantly altering metabolic control. Patient compliance is strongly influencing tyrosine blood concentrations. A subsequent prospective study with a larger sample size is necessary to get a better insight into the effect of dietary recommendations on metabolic control.

The outcome of seven patients with hereditary tyrosinemia type 1

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Songul Gokay ◽  
Pembe Soylu Ustkoyuncu ◽  
Fatih Kardas ◽  
Mustafa Kendirci
Keyword(s):  
Clinical Symptoms ◽  
Age At Onset ◽  
Nodule Formation ◽  
First Year ◽  
Tyrosine Metabolism ◽  
Tyrosinemia Type 1 ◽  
Hereditary Tyrosinemia ◽  
Biochemical Imaging

AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.Methods:A retrospective study was carried out with seven HT1 patients.Results:The median age at onset of clinical symptoms was 11.2 months (range, 3–28 months) and the median age at diagnosis was 22 months (range, 6–58 months). Liver enzymes and coagulation parameters were back to normal in all symptomatic patients in about 2 weeks. Alfa-fetoprotein (AFP) levels were normalized within the first year of therapy. Hypoechoic nodule formation was detected in two of the seven patients despite drug treatment without an increase of AFP and any dysplastic changes in the biopsies. One patient died due to metastatic HCC because of the late diagnosis and the poor compliance of the follow-up.Conclusions:This study showed once again that adherence to the treatment and a follow-up schedule of the patients are very important. Also it should not be forgotten that nodule formation can occur despite nitisinone treatment without an increase of AFP. Despite nitisinone treatment, HT1 patients still carry the risk of HCC. HCC must be detected before metastasis to other organs otherwise, patients may lose the chance for liver transplantation.

scholarly journals A case report of COVID-19 virus infection in a patient with hereditary angioedema

2020 ◽  
Author(s):  
Amin S. Kanani
Keyword(s):  
Case Report ◽  
Virus Infection ◽  
Hereditary Angioedema ◽  
Clinical Course ◽  
C1 Inhibitor ◽  
Case Presentation

Abstract Background: This is the first reported case of coronavirus disease of 2019 (COVID-19) in a patient with hereditary angioedema (HAE) type 1/2. Case presentation: A female with HAE receiving C1 inhibitor prophylaxis had no angioedema attacks when contracting the COVID-19 virus and had a mild clinical course.Conclusions: In this case there was no exacerbation of angioedema with the COVID-19 virus and the mild clinical course could possibly be from receiving C1 inhibitor prophylaxis.

scholarly journals Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report

2019 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Ana Škaričić ◽  
Marija Zekušić ◽  
Ksenija Fumić ◽  
Dunja Rogić ◽  
Valentina Uroić ◽  
...  
Keyword(s):  
Case Report ◽  
Early Treatment ◽  
Tyrosinemia 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.

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