Maternal Phenylketonuria Syndrome and Case Management Implications

Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU). Dietary protocols for managing females with PKU in their reproductive years exist but are not followed by most of them. Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as mental retardation, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)—a condition known as maternal PKU syndrome. The focus of this article is to review the pathophysiology, associated developmental issues, and existing management protocols used to manage these two separate but highly connected disorders.