Emily Groopman

Join first-year resident Emily Groopman, with her expertise in genetic diagnosis and rare diseases, as she sheds light on managing children with inborn errors of metabolism in emergency settings. They discuss the genetic foundations of these conditions and the urgency of early recognition. Emily emphasizes the importance of newborn screening and biochemical testing due to non-specific symptoms. The conversation also covers critical management steps, including glucose administration and the role of genetic consultations in ensuring optimal care.