Pediatric Topics: Evaluation of a Suspected Inborn Error of Metabolism
Guest: Brendan C. Lanpher, M.D.
Host: David J. Sas, D.O. (@davidsas1)
Inborn errors of metabolism can present in a variety of ways depending on the specific type of disease. The most critical presentation to identify occurs in the neonatal period when more severe diseases can cause acute decompensation. These patients require appropriate evaluation and timely, expert management for good outcomes. Diagnostic testing, including newborn screening, is advancing rapidly as are innovative treatment methods, making this an exciting field for clinicians. The guest for this episode is Brendan C. Lanpher, M.D., a board-certified geneticist at the Mayo Clinic Children’s Center in Rochester, Minnesota.