Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl–CoA dehydrogenase deficiency using tandem mass spectrometry

Tran, Khai; Banerjee, Srabani; Li, Huimin; Noorani, Hussein Z; Mensinkai, Shaila; Dooley, Kent C.

doi:10.1016/j.clinbiochem.2006.10.022

Cited by 21 publications

(24 citation statements)

References 35 publications

(52 reference statements)

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“…The estimated incidence varies between 1/5,000 and 1/68,560 according to the data reported in several studies (Yokota et al 1991;Andresen et al 2001;Tran et al 2007;Wilcken et al 2007).…”

Section: Introductionmentioning

confidence: 97%

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

et al. 2011

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Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We identified 11 cases of MCADD, which gives an incidence of 1/18,134. During this period, no false negative screens have been detected. At diagnosis, all identified newborns were asymptomatic. Our data showed that octanoylcarnitine (C8) and C8/C10 ratio are the best markers for screening of MCADD. C8 was increased in all patients and C8/C10 was increased in all but one patient.The common mutation, c.985A>G, was found in homozygosity in seven newborns and in compound heterozygosity in three, while one patient did not carry the common mutation at all. In addition, two novel mutations c.245G>C (p.W82S) and c.542A>G (p.D181G) were identified. Ten of the 11 identified newborns did not experience any episodes of decompensation. The patient with the highest level of medium chain acylcarnitines at diagnosis, who was homozygous for the c.985A>G mutation, died at the age of 2 years due to a severe infection. This is the first report of the results from neonatal screening for MCADD in Spain. Our data provide further evidence of the benefits of MCADD screening and contribute to better understanding of this disease.

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“…The estimated incidence varies between 1/5,000 and 1/68,560 according to the data reported in several studies (Yokota et al 1991;Andresen et al 2001;Tran et al 2007;Wilcken et al 2007).…”

Section: Introductionmentioning

confidence: 97%

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

et al. 2011

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“…Some, such as Carroll and Downs, [7] and Tran et al [8] assume a sensitivity for MS/MS of 1, thus excluding the possibility of false negatives. The more common view is to allow a small proportion of false negatives (i.e.…”

Section: Sensitivity/specificitymentioning

confidence: 99%

International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions

2009

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“…Darüber hinaus wurden 2 HTA [18,26] und ein systematischer Übersichtsartikel [17] identifiziert. Zu beiden HTA wurden Zeitschriftenartikel publiziert [19,27].…”

Section: Literaturrechercheunclassified

“…Allerdings wurde in keiner Studie die Unsicherheit der Modellstruktur einer transparenten Sensitivitätsanalyse unterzogen. Lediglich 3 Studien wendeten probabilistische Verfahren an [19,28,29], bei denen das [12,27,29], F die Rate der asymptomatischen Verläufe bei MCADD [29] sowie F die Prävalenz [12].…”

Section: Sensitivitätsanalysenunclassified

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Newborn screening and health economics – a challenging relationship

Langer

John

2009

Monatsschr Kinderheilkd

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Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl–CoA dehydrogenase deficiency using tandem mass spectrometry

Cited by 21 publications

References 35 publications

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)

International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions

Newborn screening and health economics – a challenging relationship

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