Results 141 to 150 of about 1,396 (170)

The Role of Nitisinone in Tyrosine Pathway Disorders

Current Rheumatology Reports, 2014
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).
Lakshminarayan R Ranganath
exaly   +3 more sources

Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

Drugs, 2006
Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with liver failure but can be manifest as chronic liver disease. Rarely, it may present with nonhepatic manifestations such as renal dysfunction, porphyria-like illness or cardiomyopathy.
Patrick J McKiernan
exaly   +3 more sources

Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone

Annals of the Rheumatic Diseases, 2014
Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). Over time HGA is progressively deposited as a polymer (termed ochronotic pigment) in collagenous tissues, especially the cartilages of weight bearing
Preston, Andrew J., Keenan, Craig M., Sutherland, Hazel, Wilson, Peter J., Wlodarski, Brenda, Taylor, Adam, Williams, Dominic P., Ranganath, Lakshminarayan R., Gallagher, James A., Jarvis, Jonathan C.   +9 more
core   +6 more sources

Dietary Restriction of Tyrosine and Phenylalanine Lowers Tyrosinemia Associated With Nitisinone Therapy of Alkaptonuria [PDF]

Journal of Inherited Metabolic Disease, 2020
Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy.
Juliette H Hughes, Jonathan C Jarvis, Shirley Judd   +2 more
exaly   +2 more sources

Nitisinone for the Treatment of Hereditary Tyrosinemia Type I

Expert Opinion on Orphan Drugs, 2013
Introduction: Nitisinone has transformed the management of hereditary tyrosinemia type 1 (HT1) and if combined with neonatal screening could abolish most of the clinical manifestations of the disease. Hereditary tyrosinemia type 1 is a rare genetic disease due to fumarylacetoacetase (FAH) deficiency, which usually presents with liver failure.
exaly   +2 more sources

Efficacy and Safety of Nitisinone for Patients With Alkaptonuria: A Systematic Review With Metanalysis

Molecular Genetics and Metabolism
We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU).Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid (HGA), quality of life, joint range of motion, and adverse events in AKU patients were retrieved from Pubmed and ...
Gilson Dorneles, Flávia Diniz Mayrink, Camila Alves Areda   +2 more
exaly   +3 more sources

Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria [PDF]

JIMD Reports, 2017
Nitisinone, although unapproved for use in alkaptonuria (AKU), is currently the only homogentisic acid lowering therapy with a potential to modify disease progression in AKU.
Anna Milan, Lakshminarayan R Ranganath, Milad Khedr   +2 more
exaly   +2 more sources

Cost–Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I [PDF]

Canadian Journal of Hospital Pharmacy, 2015
Background: Tyrosinemia type I is a rare but severe genetic metabolic disorder. Nitisinone combined with a diet low in tyrosine and phenylalanine became first-line therapy in 1994.Objectives: To estimate the direct medical costs of health care services ...
Jean-François Bussières, Sylvie Perreault, Jacques M. Lacroix   +2 more
exaly   +2 more sources

Anthropometric, Body Composition, and Nutritional Indicators With and Without Nutritional Intervention During Nitisinone Therapy in Alkaptonuria [PDF]

Nutrients
Introduction: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study
Andrew Davison, Brendan Norman, Anna Milan   +2 more
exaly   +2 more sources