Results 141 to 150 of about 1,331 (171)
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The Role of Nitisinone in Tyrosine Pathway Disorders
Current Rheumatology Reports, 2014Nitisinone 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 Ranganath
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. +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 Hughes +2 more
exaly +2 more sources
Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 2018 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 ...
Mette Wulf Christensen +2 more
exaly +2 more sources
Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria [PDF]
NutrientsIntroduction: 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 S Davison +2 more
exaly +2 more sources
Nederlands tijdschrift voor geneeskunde, 2007
Nitisinone is an inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase (4HPPD). Its rare area of use is hereditary tyrosinaemia, a life-threatening disease in which the last step in the catabolism of tyrosine cannot be taken due to the absence of an enzyme.
A F, Cohen, H, van Bronswijk
openaire +1 more source
Nitisinone is an inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase (4HPPD). Its rare area of use is hereditary tyrosinaemia, a life-threatening disease in which the last step in the catabolism of tyrosine cannot be taken due to the absence of an enzyme.
A F, Cohen, H, van Bronswijk
openaire +1 more source
Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1
Drugs, 2006Hereditary 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.
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2015
The clinical use of nitisinone, also known as NTBC, has a fascinating history in the context of modern medical practice. This is a remarkable account of how a weed killer has become the mainstay in the treatment of hereditary tyrosinaemia type 1, a lethal inherited metabolic disorder.
openaire +1 more source
The clinical use of nitisinone, also known as NTBC, has a fascinating history in the context of modern medical practice. This is a remarkable account of how a weed killer has become the mainstay in the treatment of hereditary tyrosinaemia type 1, a lethal inherited metabolic disorder.
openaire +1 more source
Response of metastatic recurrent neuroblastoma to nitisinone: A modulator of tyrosine metabolism
Pediatric Blood & Cancer, 2005AbstractNitisinone blocks the tyrosine pathway and may be effective in treating neuroblastoma. A 33‐month‐old male with heavily treated metastatic, recurrent, N‐MYC amplified neuroblastoma received nitsinone (0.8 mg/kg/day escalated to 5.0 mg/kg/day). Dramatic tumor regression and resolution of pain without toxicity were observed.
Nathan L, Kobrinsky, Diane E, Sjolander
openaire +2 more sources