A Nutrition Focused Approach to Team-Based Care in Metabolic Genetics-A Nutrition Focused Approach to Team-Based Care in Metabolic Genetics

Video Transcription

Video Summary

The ACMG educational webinar "Translating Genes into Health" focused on a nutrition-centered, team-based approach to managing inherited metabolic disorders (IMDs). Experts Shadeh Mafidi, a metabolic nutritionist, and Leslie Martell, a metabolic dietician, presented comprehensive insights on metabolic genetics care, emphasizing early diagnosis, nutritional management, and interdisciplinary collaboration.<br /><br />Key topics included the importance of newborn screening, which varies by state and does not cover all IMDs, highlighting the need for clinical vigilance. Presenting signs such as unexplained hypoglycemia, hyperammonemia, metabolic acidosis, failure to thrive, or neurological symptoms warrant suspicion of an IMD at any age. Mafidi stressed prevention of catabolism through timely nutritional support and discussed biochemical testing protocols, including ammonia measurement and emergency management strategies like stopping toxic substrates and promoting anabolism with protein-free calories initially, then carefully reintroducing protein.<br /><br />The webinar detailed the complexity of nutritional therapy tailored for conditions like PKU, urea cycle disorders, MSUD, and fatty acid oxidation defects, emphasizing individualization, adequate caloric intake to avoid catabolism, and the challenges of lifelong diet adherence, especially in adolescents and adults. Real patient cases illustrated diagnostic challenges, acute decompensations, and long-term management issues.<br /><br />Martell highlighted the critical role of metabolic dieticians across the lifespan, their training, job functions, and the resources available through organizations like Genetic Metabolic Dietitians International (GMDI). She reviewed clinical guidelines, educational tools, and suggested collaboration with clinical nutrition departments and advocacy groups for support.<br /><br />The session concluded with a call to maintain high clinical suspicion for IMDs in atypical presentations, use multidisciplinary care, and employ evolving nutritional therapies to improve patient outcomes.

Keywords

ACMG webinar

inherited metabolic disorders

IMDs

metabolic nutritionist

metabolic dietician

newborn screening

nutritional management

metabolic genetics care

catabolism prevention

biochemical testing

nutritional therapy

multidisciplinary care