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Progress of diagnosis and therapy in tyrosinemia type Ⅰ

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Author:: No author available

Journal Title:: International Journal of Pediatrics

Issue:: 4

DOI:: 10.3760/cma.j.issn.1673-4408.2012.04.021

Key Word:: 酪氨酸血症Ⅰ型;诊断;治疗;琥珀酰丙酮;尼替西农;Tyrosinemia type Ⅰ;Diagnosis;Treatment;Succinylacetone;Nitisinone

Abstract： Tyrosinemia type Ⅰ is an autosomal recessive disease characterized by severe liver and kidney damage.Patients with this disease may develop acute liver failure and have a high risk of hepatocellular carcinoma.The diagnosis is confirmed by elevated tyrosine serum levels and large amounts of succinylacetone in blood and urine.Nitisinone has been significantly effective in treatment of the disease,while dietary therapy with restriction of phenylalanine and tyrosine is necessary at the same time.Liver transplantation has been performed in a few patients and has a positive effect.Experimental work in model mice has provided some promise for gene therapy to this disorder.

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