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Tyrosinaemia

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https://www.readbyqxmd.com/read/27814443/type-1-tyrosinaemia
#1
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
#2
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
#3
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...
June 15, 2016: 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
#4
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
#5
Rana Bitar, Rosemary Thwaites, Suzanne Davison, Sanjay Rajwal, Patricia McClean
OBJECTIVE: Acute liver failure (ALF) in early infancy is rare and challenging to recognise and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology in order 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...
March 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26921514/pharmacotherapy-of-inborn-errors-of-metabolism-illustrating-challenges-in-orphan-diseases
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/24997710/reversible-keratopathy-due-to-hypertyrosinaemia-following-intermittent-low-dose-nitisinone-in-alkaptonuria-a-case-report
#16
R M K Stewart, M C Briggs, J C Jarvis, J A Gallagher, L Ranganath
We describe a patient with ultra-rare disease, alkaptonuria, who developed tyrosine keratopathy following nitisinone therapy of 2 mg on alternate days. His vision became impaired approximately 7 weeks following the commencement of nitisinone and ophthalmological examination at week nine showed characteristic dendritic keratopathy associated with tyrosinaemia. The corneal lesion as well as his visual symptoms normalized completely following discontinuation of nitisinone. This is the first documented report of keratopathy due to acquired tyrosinaemia due to very low-dose nitisinone...
2014: JIMD Reports
https://www.readbyqxmd.com/read/24976504/cardiovascular-disease-biomarkers-in-patients-with-inborn-errors-of-protein-metabolism-a-pilot-study
#17
P E Karam, M N Majdalani, R T Daher, A Barhoumi, N Yazbeck
BACKGROUND: Limited data exist so far on cardiovascular disease biomarkers in patients maintained on a protein-restricted diet for inborn errors of protein metabolism. The present study aimed to analyse plasma cholesterol, lipoproteins, triglycerides and total homocysteine in patients with various inborn errors of protein metabolism in comparison with healthy controls. METHODS: A cross-sectional study of cardiovascular disease biomarkers was conducted in a cohort of patients with inborn errors of protein metabolism: nine phenylketonuria, nine urea cycle defect, six branched chain organic acidaemia and two tyrosinaemia type I patients compared to 30 healthy controls...
August 2015: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/24777928/-technological-challenges-and-strategies-for-developing-low-protein-protein-free-cereal-foods-for-the-dietotherapic-treatment
#18
Emanuele Zannini
Western countries are finding health care costs to be a continuously increasing financial burden in excess of previous budgetary allocations. Medical nutrition therapies (MNT) have proven to be an efficient cost minimising tool whilst concurrently improving the patient's quality of life. These MNTs are defined as specially processed or formulated foods that are used for the dietary management of patients. Among the medical foods, low-protein/protein-free (LP/PF) foods have been shown to improve the physical manifestation of metabolic disorders in patients with amino acid or protein-related diseases, such as Phenylketonuria, Tyrosinaemia type I, as well as chronic kidney, and coeliac...
March 2014: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/24754003/the-prelude-on-novel-receptor-and-ligand-targets-involved-in-the-treatment-of-diabetes-mellitus
#19
REVIEW
Venu Gopal Jonnalagadda, Allam Venkata Sita Ram Raju, Srinivas Pittala, Afsar Shaik, Nilakash Annaji Selkar
Metabolic disorders are a group of disorders, due to the disruption of the normal metabolic process at a cellular level. Diabetes Mellitus and Tyrosinaemia are the majorly reported metabolic disorders. Among them, Diabetes Mellitus is a one of the leading metabolic syndrome, affecting 5 to 7 % of the population worldwide and mainly characterised by elevated levels of glucose and is associated with two types of physiological event disturbances such as impaired insulin secretion and insulin resistance. Up to now, various treatment strategies are like insulin, alphaglucosidase inhibitors, biguanides, incretins were being followed...
2014: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/24515874/early-nitisinone-treatment-reduces-the-need-for-liver-transplantation-in-children-with-tyrosinaemia-type-1-and-improves-post-transplant-renal-function
#20
David C Bartlett, Carla Lloyd, Patrick J McKiernan, Phil N Newsome
BACKGROUND: Tyrosinaemia type 1 (HT1) is a rare disorder of tyrosine metabolism leading to liver failure and hepatocellular carcinoma. Treatment previously consisted of dietary restriction and orthotopic liver transplantation (OLT) but was transformed by the introduction of nitisinone in 1992. We describe the impact of nitisinone on the outcome and need for OLT in a single centre. METHODS: A retrospective analysis was performed of patients treated for HT1 at Birmingham Children's Hospital from 1989-2009...
September 2014: Journal of Inherited Metabolic Disease
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