ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn.

Respiratory Distress Syndrome (RDS) is due to deficiency of surfactant and commonly occurs in preterm babies. We report the first confirmed case in Northern Ireland of ABCA3 transporter deficiency which is a rare but important cause of RDS in term babies.A 38 week gestation female infant developed respiratory distress at four hours of age.