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Tyrosinaemia

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https://www.readbyqxmd.com/read/29143197/three-cases-of-hereditary-tyrosinaemia-type-1-neuropsychiatric-outcomes-and-brain-imaging-following-treatment-with-ntbc
#1
Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F Barrington
AIM: To examine neuropsychiatric outcomes in adults with hereditary tyrosinaemia type I (HT-1), treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios. DESIGN: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (including neurocognitive assessment and mood and anxiety ratings) as well as mean tyrosine and phenylalanine levels and Phe:Tyr ratios for 3-month period...
November 16, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28755195/from-weed-killer-to-wonder-drug
#2
Edward A Lock
The discovery that a natural product leptospermone had herbicidal activity formed the starting point for chemical synthesis to find more activity and selectivity. A series of molecules called triketones were found to possess good activity and 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) was selected for toxicology testing. NTBC fed at low doses to rats and dogs caused keratopathy, which on cessation of the diet recovered. Mice, rabbits and monkeys fed NTBC did not show this response. Research discovered that NTBC caused tyrosinaemia which was due to inhibition of the enzyme 4-hydroxyphenylpyruvate dioxygenase in both mammals and plants thereby finding a novel target for killing plants...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755190/diagnosing-hepatorenal-tyrosinaemia-in-europe-newborn-mass-screening-versus-selective-screening
#3
Anibh M Das, Sebene Mayorandan, Nils Janzen
Hepatorenal tyrosinaemia (HT1) is a serious condition that used to be fatal before the advent of nitisinone (NTBC, Orfadine®) as a therapeutic option. We have recently shown that selective screening is inadequate as initial symptoms are often uncharacteristic which leads to a considerable delay in diagnosis and treatment. This has a negative impact on morbidity and mortality as well as long-term outcome. For example, the odds ratio to develop hepatocellular carcinoma is 12.7 when treatment is initiated after the first birthday compared to start of treatment in the neonatal period...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755186/liver-transplantation-for-hereditary-tyrosinaemia-type-1-in-the-united-kingdom
#4
Patrick McKiernan
Fourteen children have undergone liver transplantation for hereditary tyrosinaemia type 1 (HT1) at Birmingham Children's hospital (BCH) since 1989; six were treated prior to the availability of Nitisinone in 1993 and eight in the post Nitisinone era. Prior to 1993 essentially all children with HT1 were referred for transplantation. In the Nitisinone era only those with unresponsive liver failure or suspected malignancy were considered for transplantation. Those who were treated pre-emptively following newborn screening have no evidence of liver disease and none have required transplantation...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#5
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/27814443/type-1-tyrosinaemia
#6
M A Mannion, A Smith, P Mayne, A A Monavari
Tyrosinaemia type 1 (TYR1, OMIM# 276700) is a rare autosomal recessive disease that results from an enzyme defect that leads to a deficiency in fumarylacetoacetase (FAH)1. We present 3 cases of TYR1 in the Irish population over a 9 year period, the only cases known to have been diagnosed in Ireland since 1989. The common presenting symptom was hypoglycaemia and the diagnosis was made by the identification of the pathognomonic biomarker succinylacetone on urine organic acid analysis. We discuss the clinical presentation, biochemical and genetic results including one novel mutation...
June 10, 2016: Irish Medical Journal
https://www.readbyqxmd.com/read/27572891/reprogramming-metabolic-pathways-in-vivo-with-crispr-cas9-genome-editing-to-treat-hereditary-tyrosinaemia
#7
Francis P Pankowicz, Mercedes Barzi, Xavier Legras, Leroy Hubert, Tian Mi, Julie A Tomolonis, Milan Ravishankar, Qin Sun, Diane Yang, Malgorzata Borowiak, Pavel Sumazin, Sarah H Elsea, Beatrice Bissig-Choisat, Karl-Dimiter Bissig
Many metabolic liver disorders are refractory to drug therapy and require orthotopic liver transplantation. Here we demonstrate a new strategy, which we call metabolic pathway reprogramming, to treat hereditary tyrosinaemia type I in mice; rather than edit the disease-causing gene, we delete a gene in a disease-associated pathway to render the phenotype benign. Using CRISPR/Cas9 in vivo, we convert hepatocytes from tyrosinaemia type I into the benign tyrosinaemia type III by deleting Hpd (hydroxyphenylpyruvate dioxigenase)...
August 30, 2016: Nature Communications
https://www.readbyqxmd.com/read/27305933/predicting-tyrosinaemia-a-mathematical-model-of-4-hydroxyphenylpyruvate-dioxygenase-inhibition-by-nitisinone-in-rats
#8
John P Ward, Joanne L Dunster, Gianne Derks, Pratibha Mistry, José D Salazar
Nitisinone or 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione is a reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPPD), an enzyme important in tyrosine catabolism. Today, nitisinone is successfully used to treat Hereditary Tyrosinaemia type 1, although its original expected role was as a herbicide. In laboratory animals, treatment with nitisinone leads to the elevation of plasma tyrosine (tyrosinaemia). In rats and Beagle dogs, repeat low-dose exposure to nitisinone leads to corneal opacities whilst similar studies in the mouse and Rhesus monkey showed no comparable toxicities or other treatment related findings...
September 1, 2017: Mathematical Medicine and Biology: a Journal of the IMA
https://www.readbyqxmd.com/read/27146437/qualitative-urinary-organic-acid-analysis-10-years-of-quality-assurance
#9
Verena Peters, James R Bonham, Georg F Hoffmann, Camilla Scott, Claus-Dieter Langhans
Over the last 10 years, a total of 90 urine samples from patients with metabolic disorders and controls were circulated to different laboratories in Europe and overseas, starting with 67 laboratories in 2005 and reaching 101 in 2014. The participants were asked to analyse the samples in their usual way and to prepare a report as if to a non-specialist pediatrician. The performance for the detection of fumarase deficiency, glutaric aciduria type I, isovaleric aciduria, methylmalonic aciduria, mevalonic aciduria, phenylketonuria and propionic aciduria was excellent (98-100 %)...
September 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27007398/liver-failure-in-early-infancy-aetiology-presentation-and-outcome
#10
Rana Bitar, Rosemary Thwaites, Suzanne Davison, Sanjay Rajwal, Patricia McClean
OBJECTIVE: Acute liver failure (ALF) in early infancy is rare and challenging to recognize and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology to elucidate features to facilitate early recognition leading to prompt diagnosis and management. METHODS: All infants presenting within 120 days from birth with liver failure were included in a retrospective review over a 19-year period. The aetiology, clinical features, presenting investigations, and outcome were collected...
January 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26921514/pharmacotherapy-of-inborn-errors-of-metabolism-illustrating-challenges-in-orphan-diseases
#11
REVIEW
Anibh M Das
Orphan diseases (OD) have special challenges based on the rarity of the conditions. Mostly multicentre studies are required, controlled studies are difficult to perform. Based on the often chronic course of OD with slow progress the effect of therapeutic interventions is difficult to assess. Development and production of pharmaceutical substances for OD is difficult, time-consuming and sophisticated. Special incentives by the regulatory bodies like protocol assistance, long marketing exclusivity and reduced licencing fees encourage the development of orphan drugs...
September 2016: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/26156755/-unknown-title
#12
Carmen Ribes-Koninckx, Eugenia Pareja Ibars, Maria Ángeles Agrasot, Ana Bonora-Centelles, Begoña Polo Miquel, Juan José Carbó, Ester Donat Aliaga, Jose Mir Pallardó, Maria José Gómez-Lechón, Jose V Castell
Hepatocyte transplantation (HT) has become an effective therapy for patients with metabolic inborn errors. We report the clinical outcome of four children with metabolic inborn errors that underwent HT, describing the cell infusion protocol and the metabolic outcome of transplanted patients. Cryopreserved hepatocytes were used as this allows scheduling of treatments. Functional competence (viability, cell attachment, major cytochrome P450 and UDP-glucuronosyltransferase 1A1 activities and urea synthesis) and microbiological safety of cell batches were assessed prior to clinical use...
April 10, 2012: Cell Transplantation
https://www.readbyqxmd.com/read/25957320/neonatal-screening-for-hereditary-tyrosinaemia-are-we-there-yet
#13
EDITORIAL
Nedim Hadžić, Roshni Vara
No abstract text is available yet for this article.
August 2015: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/25901470/-unknown-title
#14
Carmen Ribes-Koninckx, Eugenia Pareja Ibars, Maria Ángeles Agrasot, Ana Bonora-Centelles, Begoña Polo Miquel, Juan José Carbó, Ester Donat Aliaga, Jose Mir Pallardó, Maria José Gómez-Lechón, Jose V Castell
Hepatocyte transplantation (HT) has become an effective therapy for patients with metabolic inborn errors. We report the clinical outcome of four children with metabolic inborn errors that underwent HT, describing the cell infusion protocol and the metabolic outcome of transplanted patients. Cryopreserved hepatocytes were used as this allows scheduling of treatments. Functional competence (viability, cell attachment, major cytochrome P450 and UDP-glucuronosyltransferase 1A1 activities and urea synthesis) and microbiological safety of cell batches were assessed prior to clinical use...
April 10, 2012: Cell Transplantation
https://www.readbyqxmd.com/read/25704061/surpassingly-competitive-electromagnetic-field-enhancement-at-the-silica-silver-interface-for-selective-intracellular-surface-enhanced-raman-scattering-detection
#15
Darya Radziuk, Helmuth Möhwald
A thin plasmonic nanofilm is formed by preformed silver nanoparticles (30 nm) in the matrix of poly(vinyl alcohol) adsorbed on silica microparticles (1.5 μm) (SiO2@Ag-PVA). By applying finite element method (FEM) analysis the surface enhanced Raman spectroscopy (SERS) enhancement factors (EFs) can reach 10(5) with higher values from 10(9) to 10(11) in the silver layer of 5 nm thickness. Nanoparticles in the SiO2@Ag-PVA nanofilm need at least 15 nm radius to exhibit SERS EFs greater than 10(7). High values of this enhancement at the silver/silica interface of spherical geometry can be reached faster by using a 532 nm compared to 785 nm excitation wavelength...
March 24, 2015: ACS Nano
https://www.readbyqxmd.com/read/25564536/outcome-of-children-with-hereditary-tyrosinaemia-following-newborn-screening
#16
P J McKiernan, Mary Anne Preece, Anupam Chakrapani
BACKGROUND: Nitisinone has transformed the management of hereditary tyrosinaemia type 1 (HT1). However, the risk of developing hepatocellular carcinoma is related to the age at which treatment is commenced. Little data on the outcome of children treated pre-emptively exist. AIM: To describe the outcome of children with HT1 treated with nitisinone following selective newborn screening (NBS) and to compare their outcome with index siblings who had presented clinically...
August 2015: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/25475116/suitability-of-nitisinone-in-alkaptonuria-1-sonia-1-an-international-multicentre-randomised-open-label-no-treatment-controlled-parallel-group-dose-response-study-to-investigate-the-effect-of-once-daily-nitisinone-on-24-h-urinary-homogentisic-acid-excretion
#17
RANDOMIZED CONTROLLED TRIAL
Lakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, John J Dutton, Richard Fitzgerald, Michael C Briggs, Helen Bygott, Eftychia E Psarelli, Trevor F Cox, James A Gallagher, Jonathan C Jarvis, Christa van Kan, Anthony K Hall, Dinny Laan, Birgitta Olsson, Johan Szamosi, Mattias Rudebeck, Torbjörn Kullenberg, Arvid Cronlund, Lennart Svensson, Carin Junestrand, Hana Ayoob, Oliver G Timmis, Nicolas Sireau, Kim-Hanh Le Quan Sang, Federica Genovese, Daniela Braconi, Annalisa Santucci, Martina Nemethova, Andrea Zatkova, Judith McCaffrey, Peter Christensen, Gordon Ross, Richard Imrich, Jozef Rovensky
BACKGROUND: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU. Nitisinone decreases homogentisic acid (HGA) in AKU but the dose-response relationship has not been previously studied. METHODS: Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) was an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study...
February 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/25266991/the-role-of-nitisinone-in-tyrosine-pathway-disorders
#18
REVIEW
Edward Lock, Lakshminarayan R Ranganath, Oliver Timmis
Nitisinone 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione (NTBC), an effective herbicide, is the licensed treatment for the human condition, hereditary tyrosinaemia type 1 (HT-1). Its mode of action interrupts tyrosine metabolism through inhibition of 4-hydroxyphenylpyruvate dioxygenase (HPPD). Nitisinone is a remarkable safe drug to use with few side effects reported. Therefore, we propose that it should be investigated as a potential treatment for other disorders of tyrosine metabolism. These include alkaptonuria (AKU), a rare disease resulting is severe, early-onset osteoarthritis...
November 2014: Current Rheumatology Reports
https://www.readbyqxmd.com/read/25213569/treatment-adherence-in-type-1-hereditary-tyrosinaemia-ht1-a-mixed-method-investigation-into-the-beliefs-attitudes-and-behaviour-of-adolescent-patients-their-families-and-their-health-care-team
#19
Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, Lina Eliasson, John Weinman, Sandrine Roche, John Walter
BACKGROUND: Type 1 hereditary tyrosinaemia (HT1) is a rare metabolic disorder caused by an enzymatic defect in the metabolism of the amino acid tyrosine. Primary treatment for HT1 is nitisinone (Orfadin) in conjunction with a low-tyrosine/phenylalanine diet. The appropriate use of nitisinone medication and adhering to specialist diet is thus central to the successful management of HT1. OBJECTIVE: To date, no published research has examined adherence (to medication and diet) and factors that influence it in the context of HT1...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25081276/cross-sectional-study-of-168-patients-with-hepatorenal-tyrosinaemia-and-implications-for-clinical-practice
#20
MULTICENTER STUDY
Sebene Mayorandan, Uta Meyer, Gülden Gokcay, Nuria Garcia Segarra, Hélène Ogier de Baulny, Francjan van Spronsen, Jiri Zeman, Corinne de Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi-Vici, Dorothea Moeslinger, Michaela Brunner-Krainz, Amelie Sophia Lotz-Havla, José Angel Cocho de Juan, Maria Luz Couce Pico, René Santer, Sabine Scholl-Bürgi, Hanna Mandel, Yngve Thomas Bliksrud, Peter Freisinger, Luis Jose Aldamiz-Echevarria, Michel Hochuli, Matthias Gautschi, Jessica Endig, Jens Jordan, Patrick McKiernan, Stefanie Ernst, Susanne Morlot, Arndt Vogel, Johannes Sander, Anibh Martin Das
BACKGROUND: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. METHODS: Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome...
2014: Orphanet Journal of Rare Diseases
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