Access to molecular genetic testing is altering the demographics of detecting hereditary diseases, creating new problems for medical care. Wilson disease (WD), which is usually discovered in older children and adults, can now be detected in utero and in babies using genetic testing. A paucity of clinical expertise has impeded an evidence-based approach to the care of these newborns and extremely young infants, who are generally asymptomatic. Researchers report a case of an infantile WD diagnosis, evaluate existing evidence, and explain current trends in prenatal genetic testing of parents and fetuses that may lead to an infantile WD diagnosis.
As a starting point for future debate, they offer an algorithmic approach to the treatment of infantile WD based on physiological and dietary factors. Future collaboration among experts is required to establish evidence-based methods and best practices for treating babies with genetically identified WD.