Newborn screening is recommended to prevent malnutrition as well as improve pulmonary condition. Adult survival is not expected past the late 20's. If diagnosed and treated, there is reduced mortality of neonates and infants. Survival past the late 20's is unusual, but is extended with treatment. A wide range of treatments are available.
Gene therapy is under investigation and evaluation.
Test Initial screen uses an immunoreactive trypsin test on dried blood sample.