Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS).

Abstract

Succinylacetone (SA) is used for the diagnosis and monitoring of patients with tyrosinemia type I (Tyr I). SA is exclusively elevated in blood and urine of patients with Tyr I. As urinary SA concentration is much higher than blood, SA is usually tested in urine samples. Urinary SA quantitation by gas chromatography mass spectrometry (GC-MS) is described in this chapter. The urine sample in the amount of 1 μmol creatinine is used for testing. 3,4,5,6,7-(13)C5-succinylacetone ((13)C5-SA) is used as an internal standard (IS). SA and (13)C5-SA are oximated and extracted from urine with organic solvents, and then derivatized to form trimethylsilane (TMS) derivatives. TMS derivatives of SA and (13)C5-SA are detected and quantified by GC-MS using selective ion monitoring (SIM). The assay is linear from 0.05 to 450 mmol/mol creatinine to cover the broad range of urinary SA concentrations.

• Authors: Hongjie Chen, Chunli Yu
• Journal: Methods in molecular biology (Clifton, N.J.) (Methods Mol Biol) Vol. 1378 Pg. 281-90 ( 2016) ISSN: 1940-6029 [Electronic] United States
• PMID: 26602140 (Publication Type: Journal Article)

Chemical References

• Heptanoates
• succinylacetone

Topics

• Gas Chromatography-Mass Spectrometry (instrumentation, methods)
• Heptanoates (urine)
• Humans
• Infant, Newborn
• Male
• Statistics as Topic
• Urinalysis (instrumentation, methods)