Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1

• Published in: Zhonghua er ke za zhi Vol. 50; no. 2; p. 126
• Main Authors: Han, Lian-shu, Ye, Jun, Qiu, Wen-juan, Zhang, Hui-wen, Wang, Yu, Ji, Wen-jun, Gao, Xiao-lan, Li, Xiao-yan, Jin, Jing, Gu, Xue-fan
• Format: Journal Article
• Language: Chinese
• Published: China 01.02.2012
• Subjects: Adolescent; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Heptanoates - blood; Heptanoates - urine; Humans; Infant; Infant, Newborn; Male; Tandem Mass Spectrometry; Tyrosinemias - blood; Tyrosinemias - diagnosis; Tyrosinemias - urine
• ISSN: 0578-1310

To establish the diagnostic method of tyrosinemia type 1 and evaluate its value, the succinylacetone levels in the blood of suspected patients with tyrosinemia were tested by tandem mass spectrometry, and the succinylacetone in the urine was tested by gas chromatography-mass spectrometry. A total of 190 patients suspected of having tyrosinemia, were tested by tandem mass spectrometry for measurement of the level of succinylacetone in the blood, and detected by gas chromatography-mass spectrometry for measurement of the level of succinylacetone and organic acid in the urine. The method of measuring the level of succinylacetone in blood by tandem mass spectrometry as follows: After the diameter of 3 mm dry blood spots were punched into wells of 96-well plate, 100 µl 80% acetonitrile were added into each well, which contained hydrazine monohydrate and the internal standard of succinylacetone. The supernatant fluid were transferred to another 96-well plate and dried under heated nitrogen, after the plate was incu