PEM Currents: The Pediatric Emergency Medicine Podcast Metabolic Disorders
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Mar 27, 2024 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.
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IEMs Overview
- Inborn errors of metabolism (IEMs) are a group of rare genetic disorders affecting metabolism.
- While individually rare, they collectively occur in about 1 in 2,500 births.
IEM Inheritance
- Most IEMs are inherited autosomal recessively, meaning both parents must carry the mutated gene.
- Family history might be negative, as carriers are unaffected, making diagnosis challenging.
Newborn Screening Limitations
- Newborn screening can miss some IEM cases due to varying tests and imperfect sensitivity.
- Consider IEMs even with negative newborn screening, especially if symptoms suggest metabolic issues.