Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Wilcken, Bridget; Haas, Marion; Joy, Pamela; Wiley, Veronica; Chaplin, Meredyth; Black, Carly; Fletcher, Janice M.; McGill, Jim; Boneh, Avihu

doi:10.1016/s0140-6736(07)60029-4

Cited by 157 publications

(146 citation statements)

References 25 publications

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“…This finding could be replicated in our follow-up study. As for many other conditions, also in MCADD the number of patients identified by screening is higher than the number of patients identified clinically (Derks et al 2005;Wilcken et al 2007;Wilcken et al 2009). The genotypic spectrum in screened cohorts includes presumably mild mutations like c.199T>C (Andresen et al 2001;Maier et al 2005), and there is ongoing discussion about genotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 92%

“…MCADD is widely accepted as suitable condition for newborn screening, as death or neurological sequelae can mostly be prevented by prophylactic measures (NennstielRatzel et al 2005;Wilcken et al 2007;Lindner et al 2011). This finding could be replicated in our follow-up study.…”

Section: Discussionmentioning

confidence: 99%

“…It is included in many newborn screening programmes worldwide (National Newborn Screening and Genetics Resource Center, Austin, Texas; Bundesausschuss 2005; Wilcken et al 2007). Outcome is predominantly excellent following presymptomatic diagnosis, if prolonged fasting is avoided and adequate emergency management is performed during episodes of metabolic stress (Wilcken et al 2007;Lindner et al 2011).…”

Section: Introductionmentioning

confidence: 99%

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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

et al. 2015

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Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, potentially mild mutations like c.199T>C are frequently found in screening cohorts. There is ongoing discussion whether this mutation is associated with a clinical phenotype.Methods: In 37 MCADD patients detected by newborn screening, biochemical phenotype (octanoylcarnitine (C8), ratios of C8 to acetylcarnitine (C2), decanoylcarnitine (C10) and dodecanoylcarnitine (C12) at screening and confirmation) and clinical phenotype (inpatient emergency treatment, metabolic decompensations, clinical assessments, psychometric tests) were assessed in relation to genotype.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

et al. 2015

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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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“…Evaluations of the impact of NBS have been published in the United States, 3 Germany, 4 and Australia. 5 In the United States, advances in technology and the proactive stance of advocates have driven the expansion of NBS at the available or that false-positive screening tests may cause more harm than good. Some of these disorders are extremely rare and have later onset forms that may not be detected during the newborn period.…”

mentioning

confidence: 99%

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

Petros

2012

Genetics in Medicine

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Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

Cited by 157 publications

References 25 publications

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

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

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

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