Elder Adam J., Ali Sablaa
Wayne State University School of Medicine
West Virginia School of Osteopathic Medicine, Lewisburg, WV
First approved by the FDA in 2002, nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1), an autosomal recessive disorder caused by a deficiency in fumarylacetoacetate hydrolase (FAH). This condition involves the accumulation of toxic intermediates in the tyrosine degradation pathway, resulting in severe liver and kidney damage. Nitisinone inhibits 4-hydroxyphenylpyruvate dioxygenase, effectively reducing the buildup of these harmful metabolites and preventing further organ damage. Monitoring succinylacetone levels in the blood is crucial for assessing treatment efficacy in patients with HT-1.
2002年，尼替西农首次获得美国食品药品监督管理局（FDA）批准，用于治疗1型遗传性酪氨酸血症（HT-1），这是一种由富马酰乙酰乙酸水解酶（FAH）缺乏引起的常染色体隐性疾病。这种病症涉及酪氨酸降解途径中有毒中间体的积累，导致严重的肝损伤和肾损伤。尼替西农抑制4-羟基苯丙酮酸双加氧酶，有效减少这些有害代谢产物的积累，并防止进一步的器官损伤。监测血液中的琥珀酰丙酮水平对于评估HT-1患者的治疗效果至关重要。
