The fatty acids are taken up by cells in the heart, muscle, and liver, and converted to acyl~CoA esters in the cytoplasm.1 The acyl~CoA esters cross the mitochondria membranes as acylcarnitines, then return to their original form, and undergo oxidation, which is mediated by long, medium, and short chain acyl~CoA dehydrogenases. [...] While it has not been found in clinically diagnosed patients, it is present in a large proportion of samples from newborn screening.4 The incidence of MCADD is higher in Germany, the UK, and English-speaking countries, because the common A985G mutation originated in people of northern European descent.5,6 Each year in the UK, between 35 and 70 newborns have MCADD,7 an incidence of 1:20,000 to 1:9, [...] The highest incidence and rate of detection were reported in two studies in Germany,16,17 but a high incidence was also found in northern UK (1:12,600).24 Information about plasma AC8 levels, ratios of AC8 and AC10, and the percentage of A985G mutation in individuals identified by MS/MS screening is presented in Table 1. Few of the studies that looked at MS/MS-based screening followed up or report [...] For grey literature, we searched the web sites of regulatory agencies, health technology assessment and related agencies and specialized databases, including the University of York NHS Centre for Reviews and Dissemination, and the Latin American and Caribbean Center on Health Sciences Information. [...] Details about the probabilities of adverse health outcomes, and calculations of the values of some cost-related parameters and assumptions for the base case scenario are presented in Appendices 12, 13, and 14 of the Technology Report.15 Sensitivity Analysis We determined best and worst scenarios, and performed one- and two-way sensitivity analyses to dispel uncertainty in the base-case findings.
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