Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia

Grenier, A; Lescault, A; Laberge, Claude; Gagné, Richard; Mamer, Orval

doi:10.1016/0009-8981(82)90117-6

Cited by 70 publications

(29 citation statements)

References 7 publications

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“…Recent publications of tandem mass spectrometry (MS/MS) methods for measuring SUAC concentrations in dried blood spot (DBS) specimens (7)(8)(9)(10)(11) have presented practical protocols for NBS for tyrosinemia type I, and NBS laboratories worldwide are implementing these and other protocols (12,13 ).…”

mentioning

confidence: 99%

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

et al. 2009

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BACKGROUND: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I-an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUACenriched DBSs to compare and evaluate the performance of these screening tests.

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confidence: 99%

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

et al. 2009

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“…Urine samples were adjusted to pH 2.2 with concentrated hydrochloric acid. The deproteinized samples were assayed on a Beckman 119 Urinary succinyl acetate and succinyl acetoacetate were assayed according to the method of Grenier et al [6].…”

Section: Methodsmentioning

confidence: 99%

“…Hereditary tyrosinemia is an inborn error of tyrosine metabolism which results from a deficiency of the enzyme, fumarylacetoacetate hydrolase [1][2][3][4][5][6]. A pathognomic feature of the disease is the presence of succinyl acetone (4,6-dioxoheptonic acid) in the serum and urine of affected persons.…”

Section: Introductionmentioning

confidence: 99%

“…A pathognomic feature of the disease is the presence of succinyl acetone (4,6-dioxoheptonic acid) in the serum and urine of affected persons. It is characterized by multiple proximal renal tubular defects, including a decreased capacity to reabsorb phosphate which leads to rickets, and progressive hepatic fibrosis leading to cirrhosis and hepatoma [1, [5][6][7][8][9][10]. Intermittant extreme elevations of alpha-fetoprotein occur in all patients with the disease.…”

Section: Introductionmentioning

confidence: 99%

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Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma

Thiel¹,

Gartner²,

Thorp³

et al. 1986

Journal of Hepatology

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“…In addition, the concentration of tyrosine in affected newborns overlaps significantly with the range observed in unaffected individuals (1 ). Succinylacetone (SUAC) is a specific marker for TYR 1, but has been adopted as primary marker only in the newborn screening program of Quebec, where this condition has an incidence of approximately 1 in 20 000 live births (4 ). A method for determination of SUAC in dried blood spots (DBS) by flow injection MS/MS was previously developed by Allard et al (5 ).…”

Section: Tyrosinemia Type I (Tyr 1;mentioning

confidence: 99%

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

et al. 2008

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Background: Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic because determination of the diagnostic marker, succinylacetone (SUAC), requires a separate first-tier or only partially effective second-tier analysis based on tyrosine concentration. To overcome these problems, we developed a new assay that simultaneously determines acylcarnitines (AC), amino acids (AA), and SUAC in dried blood spots (DBS) by flow injection tandem mass spectrometry (MS/MS). Methods: We extracted 3/16-inch DBS punches with 300 μL methanol containing AA and AC stable isotope-labeled internal standards. This extract was derivatized with butanol-HCl. In parallel, we extracted SUAC from the residual filter paper with 100 μL of a 15 mmol/L hydrazine solution containing the internal standard 13C5-SUAC. We combined the derivatized aliquots in acetonitrile for MS/MS analysis of AC and AA with additional SRM experiments for SUAC (m/z 155–137) and 13C5-SUAC (m/z 160–142). Analysis time was 1.2 min. Results: SUAC was increased in retrospectively analyzed NBS samples of 11 TYR 1 patients (length of storage, 52 months to 1 week; SUAC range, 13–81 μmol/L), with Tyr concentrations ranging from 65 to 293 μmol/L in the original NBS analysis. The mean concentration of SUAC in 13 521 control DBS was 1.25 μmol/L. Conclusion: The inclusion of SUAC analysis into routine analysis of AC and AA allows for rapid and cost-effective screening for TYR 1 with no tangible risk of false-negative results.

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Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia

Cited by 70 publications

References 7 publications

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

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