کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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1968262 | 1538762 | 2006 | 6 صفحه PDF | دانلود رایگان |
BackgroundHepatorenal 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.MethodsWe 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.ConclusionsThe 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.
Journal: Clinica Chimica Acta - Volume 365, Issues 1–2, March 2006, Pages 243–248