Progress of diagnosis and therapy in tyrosinemia type Ⅰ
10.3760/cma.i.issn.1673-4408.2012.04.021
- VernacularTitle:酪氨酸血症Ⅰ型的诊治进展
- Author:
Shengnan WU
- Publication Type:Journal Article
- Keywords:
Tyrosinemia type Ⅰ;
Diagnosis;
Treatment;
Succinylacetone;
Nitisinone
- From:
International Journal of Pediatrics
2012;39(4):393-396
- CountryChina
- Language:Chinese
-
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.
