Why is Medium Chain acyl Coenzyme A Dehydrogenase (MCAD) deficiency an emerging public health issue?
Medium Chain acyl Coenzyme A Dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Although MCAD deficiency is detectable and treatable, there are currently only a few states that screen for MCAD through newborn screening (NBS) programs. Deaths resulting from an undiagnosed MCAD deficiency may be mistakenly declared cases of Sudden Infant Death Syndrome (SIDS) and Reye Syndrome. MCAD occurs in approximately 1 in 6,500 to 1 in 20,000 live births and primarily occurs in Caucasians of northern European descent. The carrier frequency of the primary gene change in this population is estimated at 1 in 40 to 1 in 100. MCAD deficiency related deaths accounts for ~1% of SIDS. If not detected and treated, MCAD deficiency can result in death. Undiagnosed, MCAD deficiency has a mortality rate of 20-25%. One fifth of children with MCAD die with their first illness, before MCAD deficiency is known. Untreated MCAD deficiency can lead to developmental and behavioral
