Family matters Family matters Parents who have infants affected by the rare forms of CPT deficiency rarely have any warning of impending danger.
Some families lose multiple children before the underlying disorder is identified.
According to a 1999 review by JP Bonnefont, MD, PhD, a total of 39 babies in 35 families have been reported with the three forms of CPT deficiency that affect infants. In those 35 families, CPT deficiency was also suspected in an additional 26 siblings who died suddenly. Such serial tragedies have spurred American parents to advocate broader mandatory newborn screening. In most states , newborns are routinely screened for only the most common genetic disorders such as phenylketonuria and sickle cell disease. Early diagnosis would clearly benefit babies with L-CPT I deficiency and the severe infantile form of CPT II deficiency.