Background: Hepatorenal tyrosinemia (HT1) is considered a treatable inherited metabolic disease, particularly when detected early in life. Succinylacetone (SA), a unique metabolic marker for HT1, is normally circulating or excreted at very low physiological concentrations and is significantly increased in HT1 patients. Methods: We developed and validated a new method for the determination of SA in urine using high-pressure liquid chromatography with fluorescence detection. SA and its homologue 5,7-dioxooctanoic acid used as internal standard (IS) were extracted from urine, derivatized with pyrenebutyric hydrazide and separated on a C18 column within 11 min. Calibration curves were linear between 0.025 to 100 μmol/l. Within- and between-day variations were < 5% and results obtained by the current method compared favorably with a reference liquid chromatography tandem mass spectrometric method. The method was applied retrospectively to the analysis of urine samples from HT1 patients. Conclusions: The method requires a minimal sample volume (0.1 ml) with simple instrumentation. The method enabled us to differentiate HT1 cases (n = 14) from controls (n = 104), regardless of the years of urine storage. © 2005 Elsevier B.V. All rights reserved.
CITATION STYLE
Al-Dirbashi, O. Y., Jacob, M., Al-Ahaidib, L. Y., Al-Qahtani, K., Rahbeeni, Z., Al-Owain, M., & Rashed, M. S. (2006). Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection. Clinica Chimica Acta, 365(1–2), 243–248. https://doi.org/10.1016/j.cca.2005.09.001
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