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Tyrosinemia

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https://www.readbyqxmd.com/read/28783026/comment-on-pancreatitis-in-type-1-tyrosinemia
#1
Hakim Rahmoune, Nada Boutrid, Mounira Amrane, Belkacem Bioud
No abstract text is available yet for this article.
July 7, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28755191/tyrosinemia-type-i-in-japan-a-report-of-five-cases
#11
Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo
Tyrosinemia type I in Japan was reported for the first time in 1957 by Sakai et al. (Jikei Med J 2:1-10, 1957) and Kitagawa et al. (Proc Jpn Acad Ser B 88:192-200, 1957). Five cases of patients with tyrosinemia type I were reported to be definitively diagnosed in Japan. The first case was reported by Sakai et al. and Kitagawa et al. To the best of our knowledge, this was the first definite report in the world. The second and third cases were those of a brother and a sister who underwent liver transplantation and who were the children of a Japanese-descent migrant worker; the fourth case was that of a girl who underwent liver transplantation after 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) treatment, which was reported by Hata et al...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755189/neurological-and-neuropsychological-problems-in-tyrosinemia-type-i-patients
#12
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, Francjan J van Spronsen
Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. However, recurrent neurological crises are another main finding in these patients when they are treated with a tyrosine and phenylalanine restricted diet only. This is caused by the accumulation of δ-aminolevulinic acid due to the inhibitory effect of succinylacetone on the enzyme that metabolizes δ-aminolevulinic acid. Due to the biochemical and clinical resemblance of these neurological crises and acute intermittent porphyria, this group of symptoms in HTI patients is mostly called porphyria-like-syndrome...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755188/liver-cancer-in-tyrosinemia-type-1
#13
Willem G van Ginkel, Jan P Pennings, Francjan J van Spronsen
Hereditary Tyrosinemia type I (HT1) is clinically mainly characterised by severe liver disease. Most patients present in their first months of life with liver failure, but others can present later with issues of compensated cirrhosis, renal tubulopathy or acute intermittent porphyria. If patients survive the acute phase with liver failure or if they present later with compensated cirrhosis, they often develop hepatocellular carcinoma early but also later in life. The course of the disease changed after the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), which blocks the tyrosine degradation pathway at an earlier step...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755187/ntbc-and-correction-of-renal-dysfunction
#14
Arianna Maiorana, Carlo Dionisi-Vici
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. Kidney involvement is characterized by hypophosphatemic rickets and Fanconi syndrome. Different animal models were useful to investigate the pathophysiology of the disease and the effects of NTBC therapy on liver and kidney function. NTBC has revolutionized the prognosis of HT1 and its acute and chronic effects on renal tubular function have been proved, with normalization of tubular function within a few weeks, particularly hypophosphatemia and proteinuria...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755185/the-liver-in-tyrosinemia-type-i-clinical-management-and-course-in-quebec
#15
Ugur Halac, Josée Dubois, Grant A Mitchell
HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. Before the era of treatment with 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), even with newborn screening and optimal diet therapy, HT1 patients often developed liver failure. Death was common in patients who did not undergo liver transplantation. For the last two decades, NTBC has revolutionized the management of HT1 patients. In screened newborns treated within the first month of life, we have not observed hepatocarcinoma...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755184/tyrosinemia-and-liver-transplantation-experience-at-chu-sainte-justine
#16
Fernando Alvarez, Grant A Mitchell
Tyrosinemia is a disease of the tyrosine metabolism, affecting mainly liver, kidney and peripheral nerves. Two forms of liver disease caused by a deficiency of FAH are recognised: (1) acute liver failure; (2) chronic liver disease. Since the introduction of NTBC [2-(2-nitro-4-trifluoromethyl benzoyl)-1-3-cyclohexanedione] (nitisinone(R)) in the treatment of tyrosinemia, no liver disease has been observed when started in the first weeks of life. Liver transplantation is a good option for the treatment of tyrosinemic patients developing liver nodules, with high suspicion of hepatocarcinoma...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755183/molecular-pathogenesis-of-liver-injury-in-hereditary-tyrosinemia-1
#17
Robert M Tanguay, Francesca Angileri, Arndt Vogel
Untreated HT1 rapidly degenerates into very severe liver complications often resulting in liver cancer. The molecular basis of the pathogenic process in HT1 is still unclear. The murine model of FAH-deficiency is a suitable animal model, which represents all phenotypic and biochemical manifestations of the human disease on an accelerated time scale. After removal of the drug 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), numerous signaling pathways involved in cell proliferation, differentiation and cancer are rapidly deregulated in FAH deficient mice...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755182/molecular-aspects-of-the-fah-mutations-involved-in-ht1-disease
#18
Geneviève Morrow, Francesca Angileri, Robert M Tanguay
Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clinical phenotype has been reported. At first, it seems that any mutation in the gene results in HT1. However, placing these mutations in their molecular context allows a better understanding of their possible effects...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755181/biochemical-and-clinical-aspects-of-hereditary-tyrosinemia-type-1
#19
Geneviève Morrow, Robert M Tanguay
Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs. The most severe metabolic disorder associated with this catabolic pathway is hereditary tyrosinemia type 1 (HT1; OMIM 276700). HT1 is an autosomal recessive disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755180/discovery-of-hereditary-tyrosinemia-in-saguenay-lac-st-jean
#20
Jean Larochelle
Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1).
2017: Advances in Experimental Medicine and Biology
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