Determination of succinylacetone levels in a part of healthy child population in Slovakia

Česká verzia

Authors: G. Addová; R. Górová; H. Jurdáková
Authors place of work: Chemický ústav, Prírodovedecká fakulta, Univerzita Komenského, Bratislava, Slovensko
Published in the journal: Čes-slov Pediat 2020; 75 (2): 91-96.
Category: Original Papers

Summary

Objective: The aim of the study was to obtain a physiological range of succinylacetone as a marker for tyrosinemia type I in part of the child population in Slovakia.

Methods: To achieve the target, direct injection tandem mass spectrometry was applied, a commercial kit of Chromsystems for amino acids and acylcarnitines and succinylacetone with derivatization was used for the dry blood sample pre-treatment.

Results: The physiological range of the SUAC, in our sample set and by chosen pre-treatment, as measured in the dry blood spot is from 0.32 to 0.70 µmol/L, with average of 0.50 µmol/L and a median of 0.49 µmol/L.

Conclusion: In view of its advantage of simultaneous determination amino acids, acylcarnitines and succinylacetone from a single dry blood sample, for very important early detection of tyrosinemia I, is this method suitable for routine practice in laboratories dealing with hereditary metabolic diseases.

Keywords:

screening – tyrosinemia – succinylacetone – dry blood spot – tandem mass spectrometry

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