Acyl-coa dehydrogenase, medium-chain, deficiency of


What are the first steps after a newborn screening test is positive for medium-chain acyl-CoA dehydrogenase deficiency (MCAD)?

If an infant has a positive newborn screening test for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, then further testing will be done to confirm that the child has the disorder. If the diagnosis is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment requires that parents make sure that their infants or children do not go long periods of time without eating. Other initial steps will depend on how the disorder is affecting a person and whether the disorder was diagnosed after an episode of metabolic crisis. Families should see a genetic counselor to help understand the genetic aspects of this disorder. Genetic counselors can be found on the National Society of Genetic Counselors website.

Families may consider contacting a support group after a diagnosis of MCAD deficiency. The FOD Family Support Group provides information, support, guidance, referrals and networking among other programs for individuals and families affected by fatty oxidation disorders like MCAD deficiency.

Newborn Screening ACT Sheet: Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine (Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency. American College of Medical Genetics website.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Baby's First Test website.

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