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Measurement of Succinylacetone Using HPLC-Tandem Mass Spectrometry and Establishment of a Cut-off Value
Article in Korean | WPRIM | ID: wpr-716937
Responsible library: WPRO
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.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Mass Spectrometry / Tyrosine / Humans / Trinitrotoluene / Infant, Newborn / Mass Screening / Tyrosinemias / Diagnosis, Differential / Tandem Mass Spectrometry / Infant Type of study: Screening study Language: Korean Journal: Journal of Laboratory Medicine and Quality Assurance Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Mass Spectrometry / Tyrosine / Humans / Trinitrotoluene / Infant, Newborn / Mass Screening / Tyrosinemias / Diagnosis, Differential / Tandem Mass Spectrometry / Infant Type of study: Screening study Language: Korean Journal: Journal of Laboratory Medicine and Quality Assurance Year: 2018 Type: Article