Because of the enormous number of pediatric metabolic diseases, their individual rarity and the wide range of systems affected, the diagnosis of these diseases may be very difficult. Adding to the diagnostic problem is the frequent variation in symptoms from one child to the next. Diagnosis therefore relies on specialized medical testing and a process of elimination in which other diseases are ruled out first. The experienced staff at the Inherited Metabolic Diseases Clinic utilizes a variety of advanced tests that are sent to specialized labs to screen for abnormalities that would indicate a metabolic disorder. A proper diagnosis is critical in order to properly treat the disease.
In Nebraska and all states, newborn infants are screened for almost 30 genetic diseases at the time of birth through what is called a phenylketonuria (PKU) test. Most of these diseases are inherited metabolic disorders that threaten the life of the infant or result in serious symptoms, such as mental retardation, if left untreated. The symptoms can begin weeks or even months after the baby is born. Some of these diseases include phenylketonuria, galactosemia and biotinidase deficiency. Infants who test positive for a metabolic disease on newborn screening are referred to the Inherited Metabolic Disease Clinic at Children's for confirmation of the diagnosis and initiation of therapy. Each year, approximately 12 infants with an inherited metabolic disease are detected in Nebraska and the surrounding region by newborn screening.