In hepatorenal tyrosinemia type 1 (HT1) tyrosine breakdown is impaired due to a deficiency in fumarylacetoacetate hydrolase. As a consequence, fumarylacetoacetate is converted into succinylacetone (4,6-dioxoheptanoic acid) which is elevated in HT1 patients. Since succinylacetone is unknown to occur in any other metabolic pathway, it is a specific diagnostic marker for the disease. It can be reliably measured in plasma, urine, amniotic fluid and dried blood spots.


- [1,2,3,4-13C4]succinylacetone

Synthesis and application

Al-Dirbashi OY, Rashed MS, ten Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faquih E. Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. J Chromatogr B 831 (2006) 274-280

Johnson DW, Gerace R, Ranieri E, Trinh M-U, Fingerhut R. Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry. Rapid Commun Mass Spectrom 21 (2007) 59-63.