PMID- 26602140 OWN - NLM STAT- MEDLINE DCOM- 20160908 LR - 20151125 IS - 1940-6029 (Electronic) IS - 1064-3745 (Linking) VI - 1378 DP - 2016 TI - Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS). PG - 281-90 LID - 10.1007/978-1-4939-3182-8_30 [doi] AB - 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 mumol 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. FAU - Chen, Hongjie AU - Chen H AD - Department of Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai, New York, NY, USA. FAU - Yu, Chunli AU - Yu C AD - Department of Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai, New York, NY, USA. chunli.yu@mssm.edu. LA - eng PT - Journal Article PL - United States TA - Methods Mol Biol JT - Methods in molecular biology (Clifton, N.J.) JID - 9214969 RN - 0 (Heptanoates) RN - 51568-18-4 (succinylacetone) SB - IM MH - Gas Chromatography-Mass Spectrometry/instrumentation/*methods MH - Heptanoates/*urine MH - Humans MH - Infant, Newborn MH - Male MH - Statistics as Topic MH - Urinalysis/instrumentation/*methods OTO - NOTNLM OT - Gas chromatography OT - Mass spectrometry OT - Succinylacetone OT - Tyrosinemia I EDAT- 2015/11/26 06:00 MHDA- 2016/09/09 06:00 CRDT- 2015/11/26 06:00 PHST- 2015/11/26 06:00 [entrez] PHST- 2015/11/26 06:00 [pubmed] PHST- 2016/09/09 06:00 [medline] AID - 10.1007/978-1-4939-3182-8_30 [doi] PST - ppublish SO - Methods Mol Biol. 2016;1378:281-90. doi: 10.1007/978-1-4939-3182-8_30.