Measurement of Succinylacetone Using HPLC-Tandem Mass Spectrometry and Establishment of a Cut-off Value.
10.15263/jlmqa.2018.40.3.149
- Author:
Sun Hee JUN
1
;
Jong Do SEO
;
Kyunghoon LEE
;
Junghan SONG
Author Information
1. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. Songjhcp@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Succinylacetone;
Tyrosinemias;
Tandem mass spectrometry
- MeSH:
Centers for Disease Control and Prevention (U.S.);
Diagnosis, Differential;
Humans;
Infant;
Infant, Newborn;
Mass Screening;
Mass Spectrometry*;
Methods;
Tandem Mass Spectrometry;
Trinitrotoluene;
Tyrosine;
Tyrosinemias
- From:Journal of Laboratory Medicine and Quality Assurance
2018;40(3):149-154
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND: Newborn screening of tyrosinemia type 1 is important for identifying infants at risk for developing this disease before life-threatening symptoms occur. It is difficult to differentiate between tyrosinemia type 1 and transient neonatal tyrosinemia (TNT) by analyzing tyrosine alone. Thus, succinylacetone must be analyzed. In this study, we measured succinylacetone in dried blood spot (DBS) by HPLC-tandem mass spectrometry (HPLC-MS/MS) and established cut-off values. METHODS: We used the hydrazine derivatization method to measure succinylacetone in 127 DBSs showing normal results in the newborn screening test and 93 DBSs showing increased tyrosine levels. We established cut-off values using the 99.9th percentile value or median+5 standard deviation value. RESULTS: Succinylacetone levels determined by our method were well-correlated with the results recommended by the Centers for Disease Control and Prevention for proficiency testing (r=0.9968). The succinylacetone levels in normal newborn DBSs were significantly lower than those in DBSs with high tyrosine levels (P < 0.001). The cut-off values were calculated to be 1.3 µM from the results of 127 normal DBS samples and 2.2 µM from 220 DBSs, including in 93 newborns with TNT. CONCLUSIONS: Measurement of succinylacetone in DBSs by HPLC-MS/MS is useful in individuals with increased tyrosine concentrations and can be used for rapid differential diagnosis of tyrosinemia when an appropriate cut-off value is established.
