View Only- Adult Genomic Case Conference hosted by Emory University School of Medicine-Adult Genomic Case Conference

Video Transcription

Video Summary

The video's transcript mentioned three different cases. The first case discusses the difficulties in recognizing inborn errors of metabolism (IEM) in adults. The transcript explains that IEMs are typically associated with pediatric populations, so it can be challenging for physicians to consider IEM as a cause for symptoms in adult patients. Additionally, the rarity of adult IEMs and their varied presentations further contribute to the difficulty in identifying them. The transcript provides a list of red flags to watch for when recognizing potential IEMs in adults, such as neurological and psychiatric symptoms, unusual presentations of common diseases, and the presence of certain physical signs. The second case focuses on a patient with a vaginal melanoma and a family history of cancer. The patient's genetic testing revealed a pathogenic variant in the MC1R gene, which is associated with a higher risk of melanoma. However, the transcript explains that this variant is not highly impactful and may not significantly change the patient's management or treatment plan. The third case involves a patient with an acute mental status change and a history of seizures and cognitive decline. The patient's lab work and imaging studies revealed elevated homocysteine levels and neurological abnormalities. Further molecular testing identified pathogenic variants in the MTR gene, which is associated with cobalamin G defect. The patient was started on treatment for this condition, which improved some of his symptoms. The transcript emphasizes the importance of not missing a treatable condition and highlights the challenges in the long-term follow-up of adult patients with metabolic conditions.

Asset Subtitle

Hosted by Emory University School of Medicine

Keywords

recognizing inborn errors of metabolism

difficulties in identifying adult IEMs

red flags for potential IEMs in adults

vaginal melanoma

genetic testing

MC1R gene variant

acute mental status change

cobalamin G defect

long-term follow-up of adult patients