The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

Marca, Giancarlo la; Malvagia, Sabrina; Funghini, Silvia; Pasquini, Elisabetta; Moneti, Gloriano; Guerrini, Renzo; Zammarchi, Enrico

doi:10.1002/rcm.4289

Cited by 16 publications

(16 citation statements)

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“…The case presented here, as also the previously reported case (la Marca et al 2009), provides further evidence on the importance of using SUAC as the primary metabolic marker for detecting tyrosinemia type I in newborn screening.…”

Section: Resultssupporting

confidence: 79%

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Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

et al. 2011

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Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxic metabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for newborn screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC during expanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic newborn affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 mmol/L, n.v.<2) and normal tyrosine concentration (74 mmol/L; n.v.<250). We also performed molecular analysis of FAH gene in both patients after diagnosis at newborn screening. They had consanguineous parents and were both homozygous for two known disease-causing mutations of the FAH gene. The outcome of patients detected in the MS/MS screening is significantly favorable. We also report our results of newborn screening for tyrosinemia type I before and after inclusion of SUAC as a primary marker for this disease.

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Section: Resultssupporting

confidence: 79%

“…We established the usefulness of this method after identifying a first asymptomatic newborn with by tyrosinemia type I (la Marca et al 2009). We now present a second infant with positive SUAC screening and tyrosine within the normal range.…”

Section: Introductionmentioning

confidence: 94%

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

et al. 2011

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“…[21][22][23][24] It has been suggested that the observed variability could be improved by standardization of preanalytical variables. 25,26 Despite these issues, both Asa and Suac are absolutely required for the reliable detection of two primary targets of the uniform panel, argininosuccinic acidemia (OMIM number 207900), and tyrosinemia type I (276700). Every effort should be made to expand their utilization and to mitigate existing differences among laboratories.…”

Section: Resultsmentioning

confidence: 99%

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

McHugh

Cameron

Abdenur

et al. 2011

Genetics in Medicine

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, Melissa Yssel, MB ChB, FC Path(SA) Chem 139, and Wendy M. Zakowicz, BS 79 Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration.

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“…Adherimos fuertemente a la propuesta de la Academia Americana de Pediatría sobre pesquisa neonatal, considerando su costo versus sobrevida en esta enfermedad actualmente tratable. Sería una medida aconsejable para usar en Chile, como ya se hace en otros países [16][17][18][19] . En América Latina sólo hay 2 países, Uruguay y Cos- ta Rica, que realizan pesquisa neonatal para esta enfermedad, pero aún no han encontrado casos 20 .…”

Section: Discussionunclassified

Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)

et al. 2012

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The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

Cited by 16 publications

References 9 publications

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)

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