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Tyrosinemia

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https://www.readbyqxmd.com/read/29201126/neurological-crises-after-discontinuation-of-nitisinone-ntbc-treatment-in-tyrosinemia
#1
Naser Honar, Nader Shakibazad, Zahra Serati Shirazi, Seyed Mohsen Dehghani, Soroor Inaloo
Objective: Tyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosine diet have prevented neurological crises. The purpose of this article was to express the importance of taking nitisinone (NTBC) for tyrosinemia diseases and risks of inadvertent discontinuation...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29195145/simultaneous-quantification-of-succinylacetone-and-nitisinone-for-therapeutic-drug-monitoring-in-the-treatment-of-tyrosinemia-type-1
#2
Jonas Sundberg, Flemming Wibrand, Allan Meldgaard Lund, Mette Christensen
We present a straightforward and robust method for simultaneous quantification of succinylacetone and nitisinone in plasma using LC-ESI-MS/MS. The method has been developed for routine therapeutic drug monitoring in hepatorenal tyrosinemia type 1 (HT1) patients undergoing nitisinone treatment. Previous methods are based on separate analyses of succinylacetone and nitisinone, often using the potentially harmful compound hydrazine for derivatization of the former. In the present procedure, succinylacetone is derivatized in a single-step using butanolic HCl...
November 26, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29170874/daily-variation-of-ntbc-and-its-relation-to-succinylacetone-in-tyrosinemia-type-1-patients-comparing-a-single-dose-to-two-doses-a-day
#3
Nienke S Kienstra, Hannah E van Reemst, Willem G van Ginkel, Anne Daly, Esther van Dam, Anita MacDonald, Johannes G M Burgerhof, Pim de Blaauw, Patrick J McKiernan, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
INTRODUCTION: In hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the absence of toxic metabolites such as succinylacetone (SA) is still unknown. Therefore, the aims of this study were to investigate the variation and concentrations of 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) during the day in relation to the detection of SA, while comparing different dosing regimens. METHODS: All patients were treated with NTBC (mean 1...
November 23, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110168/caregiver-quality-of-life-with-tyrosinemia-type-1
#4
Hailey Campbell, Rani H Singh, Eric Hall, Nadia Ali
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact...
November 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#5
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#6
Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000)...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28987047/-epidemiology-and-risk-factors-of-hepatocellular-carcinoma
#7
REVIEW
Agnieszka Budny, Piotr Kozłowski, Marzena Kamińska, Małgorzata Jankiewicz, Agnieszka Kolak, Bożena Budny, Witold Budny, Joanna Niemunis-Sawicka, Grzegorz Szczypiór, Bartosz Kurniawka, Franciszek Burdan
Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. It also varies significantly depending on the geographic location. The main factors that cause HCC are infection of HBV and HCV, whose genome integrates into the DNA of the host, causing mutations. The other factors include excessive alcohol consumption, contact or consumption of Aspergillus toxins as well as various metabolic disorders, such as α1-antitrypsin deficiency, hemochromatosis, tyrosinemia, porphyria, von Gierke disease and in person with gene mutation p...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28949985/presumptive-brain-influx-of-large-neutral-amino-acids-and-the-effect-of-phenylalanine-supplementation-in-patients-with-tyrosinemia-type-1
#8
Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
INTRODUCTION: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychological deficits have been seen in HT1 patients. These deficits are possibly associated with low blood phenylalanine concentrations and/or high blood tyrosine concentrations. Therefore, the aim of the present study was threefold...
2017: PloS One
https://www.readbyqxmd.com/read/28893311/evaluation-of-pre-symptomatic-nitisinone-treatment-on-long-term-outcomes-in-tyrosinemia-type-1-patients-a-systematic-review
#9
REVIEW
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following screening provides better long-term outcomes than treatment with nitisinone following symptomatic detection. METHODS: We searched Web of Science, Medline, Pre-Medline, and Embase up to 23rd September 2016 for journal articles comparing clinical outcomes of TYR1 patients receiving earlier versus later nitisinone treatment...
September 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28879639/nitisinone-induced-keratopathy-in-alkaptonuria-a-challenging-diagnosis-despite-clinical-suspicion
#10
Andrew White, Michel C Tchan
Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint and spine arthropathy and cardiac valvular disease. It is characterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate dioxygenase, hence reducing the production of homogentisic acid. Thus it is thought that nitisinone might be a treatment for alkaptonuria. A side effect of NTBC therapy is elevation of plasma tyrosine levels in a manner analogous to tyrosinemia type 2, another related condition which causes a painful palmoplantar hyperkeratosis and eye pathology described as conjunctivitis and herpetic-like corneal ulceration...
September 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28783026/comment-on-pancreatitis-in-type-1-tyrosinemia
#11
Hakim Rahmoune, Nada Boutrid, Mounira Amrane, Belkacem Bioud
No abstract text is available yet for this article.
August 4, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28771246/diagnosis-and-treatment-of-tyrosinemia-type-i-a-us-and-canadian-consensus-group-review-and-recommendations
#12
REVIEW
Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley, C Ronald Scott
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28769581/clinical-utility-of-nitisinone-for-the-treatment-of-hereditary-tyrosinemia-type-1-ht-1
#13
REVIEW
Anibh Martin Das
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of tyrosine and phenylalanine. This treatment option has completely changed the clinical course of patients suffering from HT-1 who used to die in the first few months to years of life from liver failure, renal dysfunction, and/or hepatocellular carcinoma (HCC)...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28755200/gene-therapy-in-tyrosinemia-potential-and-pitfalls
#14
Sophie Carter, Yannick Doyon
In this chapter, we intend to review gene therapy concepts applied to the potential treatment of tyrosinemia for parents and pediatricians. Therefore, our main objective is to give general informations in a comprehensible manner. Considering the nature of tyrosinemia and the current state of technology, a particular focus will be put on strategies using viral delivery of DNA to the liver. In light of the recent development of the CRISPR technology and the revival of promises for previously unavailable therapeutical tools, the present chapter aims at presenting up to date facts and potential pitfalls towards an application for metabolic diseases, in particular tyrosinemia...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755198/remaining-challenges-in-the-treatment-of-tyrosinemia-from-the-clinician-s-viewpoint
#15
Grant A Mitchell, Hao Yang
This chapter provides a clinical perspective on the challenges that stand between current clinical practice and a cure for hepatorenal tyrosinemia (HT1). HT1 has been transformed in the last 50 years from an aggressive often undiagnosed childhood disease causing liver failure or liver cancer, with infant death in most patients, to a condition that is detectable at birth, and for which treatment with nitisinone (NTBC) and diet can prevent detectable liver or kidney abnormalities. What challenges remain? The properties of the affected metabolic pathway and the broad spectrum of severity seen in untreated patients are incompletely understood but potentially important for patients...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755197/dietary-considerations-in-tyrosinemia-type-i
#16
Francjan J van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M Das
Since the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), life expectancy of HT1 patients greatly improved. However, due to treatment with NTBC, tyrosine concentrations greatly increase. As a consequence to possible neurocognitive problems, the main objective of dietary therapy in HT1 is to provide adequate nutrition allowing normal growth and development while strictly controlling tyrosine levels in blood (and tissues). Although no well-defined target levels exist, tyrosine concentrations below 400 μmol/L are considered to be safe...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755196/the-qu%C3%A3-bec-ntbc-study
#17
Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas, Jean-François Bussières, Josée Dubois, Daphna Fenyves, Paul Goodyer, Martyne Gosselin, Ugur Halac, Patrick Labbé, Rachel Laframboise, Bruno Maranda, Serge Melançon, Aicha Merouani, Grant A Mitchell, John Mitchell, Guy Parizeault, Luc Pelletier, Véronique Phan, Jean-François Turcotte
In this chapter we describe the current Quebec NTBC Study protocol. Quebec's unique characteristics have influenced the development of the protocol, including a high prevalence of hepatorenal tyrosinemia (HT1), universal newborn screening for HT1, availability of treatment with nitisinone (NTBC) and special diet, a large territory, where HT1 treatment is coordinated by a small number of centers. Screened newborns are seen within 3 weeks of birth. Patients with liver dysfunction (prolonged prothrombin time and/or international normalized ratio (INR) provide sensitive, rapidly available indicators) are treated by NTBC and special diet...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#18
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755193/hepatorenal-tyrosinemia-in-mexico-a-call-to-action
#19
Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy. Its clinical diagnosis is difficult because of its low prevalence and heterogeneous symptoms. In developed countries, expanded newborn screening, based on succinylacetone quantification by tandem mass spectrometry, has been very valuable in the early detection of hepatorenal tyrosinemia, providing the opportunity for rapid treatment of affected patients. In developing countries without systematic expanded newborn screening, however, diagnosis and treatment of this disease remain major challenges, as genetic diseases in these countries are not a health priority and there are few referral centers for infants with inherited errors of metabolism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755192/newborn-screening-for-hereditary-tyrosinemia-type-i-in-qu%C3%A3-bec-update
#20
Yves Giguère, Marie-Thérèse Berthier
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and may lead to death. Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the IVS12 + 5G>A (1062 + 5G>A) splice site mutation responsible for more than 90% of mutated alleles...
2017: Advances in Experimental Medicine and Biology
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