根据酶缺陷的种类不同,分为三型:酪氨酸血症Ⅰ型(tyrosinemia type 1, HT-Ⅰ, 0MIM 276700)又称为肝-肾型酪氨酸血症,是由于延胡索酰乙酰乙酸水解酶(fumarylacetoacetate hydrolase,FAH)缺陷,导致延胡索酰乙酰乙酸不能分解为延胡索酸和乙酰乙酸,从而引起以肝、肾和周围神经病变为特征的代谢性疾病;酪氨酸血症Ⅱ型,...
Tyrosinemia, type 1 (TYR1) (OMIM #276700) is an autosomal recessive disorder of tyrosine degradation caused by a deficiency in fumarylacetoacetate hydrolase (FAH) (EC3.7.1.2), which results in the accumulation of the enzyme's substrate and precursor, fumarylacetoacetate (FAA) and maleyl...
theorfadin generation standing together Since 2002, Americans with hereditary tyrosinemia type 1 (HT-1) have been able to take Orfadin®(nitisinone) for their condition. That's over 150 patients to date who have been treated with Orfadin for HT-1. We proudly call them the Orfadin Ge...
Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairmen...
Berger R, Faassen H van, Taanman JW, Vries H de, Agsteribbe E (1988) Different types of mutations in the chronic and acute forms of type 1 tyrosinemia (abstract). Pediatr Res 24 :266Berger R, van Faassen H, Taanman JW,de Vries H, Agsteribbe A. Different types of mutations in ...
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) ...
Windsor, London, UK, 18thJanuary 2024–Life Science Newswire– Inceptua Group (Inceptua) and Cycle Pharmaceuticals Ltd (Cycle) have announced a partnership to make NITYR® (nitisinone) Tablets available via a Free Goods...
Involvement of endo- plasmic reticulum stress in hereditary tyrosinemia type I. J Biol Chem 2006;281:5329-5334.A. Bergeron, R. Jorquera, D. Orejuela, R.M. Tanguay, Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I, J. Biol. Chem. 281 (2006) 5329-5334....
385. Tol2 Transposon as a Gene Therapy Vector: Characterization, Optimization and Correction of Hereditary Tyrosinemia Type 1 in Mouse385. Tol2 Transposon as a Gene Therapy Vector: Characterization, Optimization and Correction of Hereditary Tyrosinemia Type 1 in MouseGENE therapyGENETIC...
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. Background Hereditary tyrosinemia type 1 (HT1), which is associated with severe liver and kidney damage, is caused by deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme...