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MCADD screening gambel pits benefis aginst costs

Some newborn screening policy choices may resemble the fairy tale bargain in which a parent is asked to gamble for the life of her child.

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) illustrates the dilemma particularly well. Unlike phenylketonuria (PKU) nd hypothyroidism, there is no guarantee that screening for MCADD will save huge sums of money. In fact, while formal cost analysis should be done, it is possible that the net effect might even cost the community — the cost of saving the lives and health of children with a completely treatable disease.

Let's explore the issues.

MCADD is a disorder of fatty acid oxidation. Most children with this autosomal recessive disorder are born to families with no history of the disease. While some affected neonates are symptomatic, with hypoglycemia and/or apnea responding to IV glucose, presentation is most common between 3 months and 2 years of age with minor illness, or when a baby first sleeps through the night. These are times when normal catabolism requires oxidation of fatty acids for ketogenesis.