Research LettersNeonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
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Cited by (80)
80 - Sudden Infant Death Syndrome and Apparent Life-Threatening Events
2019, Kendig's Disorders of the Respiratory Tract in Children221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
2016, Molecular Genetics and MetabolismCitation Excerpt :Neonatal triggers were defined as neonatal complications and interventions suggestive of underlying health complications determined by clinician authors as most likely to result in potential MCADD symptoms. Neonatal symptoms were defined by clinician authors as symptoms consistent with MCADD, many based on reports of symptoms manifested in individuals affected with MCADD [9,14–20]. Neonatal abnormal labs were defined by clinician authors as laboratory test abnormalities of potential concern in the context of MCADD (excluding newborn screening and MCADD diagnostic biochemical and molecular test results).
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence
2014, Journal of Clinical EpidemiologyCitation Excerpt :It is estimated that about 80% of clinically identified individuals are homozygous for c.985A>G, 18% are heterozygous for c.985A>G, and 2% have other gene variations associated with the disease [2]. Clinical presentation can occur as early as the first days of life [2,3], and although not all individuals present symptomatically [2,4,5], about 20–25% of those who do die at the first presentation [2,5] with survivors facing an average 6% risk of developing severe neurocognitive impairments [5,6]. For these reasons, Australia, Canada, New Zealand, the United States, and several European countries have included MCADD in their newborn screening programs with tandem mass spectrometry (MS/MS) of metabolic markers as the screening method [6–10].
Decision analysis, economic evaluation, and newborn screening: Challenges and opportunities
2012, Genetics in MedicineSudden Infant Death Syndrome and Apparent Life-Threatening Events
2012, Kendig and Chernick's Disorders of the Respiratory Tract in Children