A Nutrition Focused Approach to Team-Based Care in Metabolic Genetics: Integrating Clinical, Laboratory, and Nutrition Expertise-Presentation Slides

Presentation Slides

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The American College of Medical Genetics and Genomics (ACMG) webinar titled "A Nutrition Focused Approach to Team-Based Care in Metabolic Genetics" held on September 16, 2025, emphasized integrating clinical, laboratory, and nutrition expertise for optimal management of inborn errors of metabolism (IEMs). Sponsored by ACMG with contributions from Genetic Metabolic Dietitians International (GMDI), the session targeted healthcare providers involved in diagnosing and managing genetic metabolic disorders.<br /><br />Key learning objectives included understanding IEM pathophysiology, clinical presentations, and treatments, highlighting the crucial role of nutrition therapy, and familiarity with nutrition resources for management. IEM presentations vary by age and can include neurological deterioration, liver failure, hypoglycemia, cardiac failure, and metabolic crises often triggered by catabolism (fasting, illness).<br /><br />Newborn screening (NBS) remains vital but incomplete in detecting some urea cycle disorders (UCDs), necessitating ongoing vigilance beyond infancy. Laboratory evaluation during acute decompensation includes plasma ammonia, amino acids, acylcarnitine profile, and organic acids, with prompt sample handling critical for accuracy.<br /><br />Nutrition therapy principles center on preventing catabolism, providing adequate calories and protein via specialized medical foods, and early introduction of essential amino acids to promote anabolism. Emergency management involves stopping toxic substrates intake, correcting metabolic imbalances, and using adjunct therapies such as nitrogen scavengers (sodium benzoate/phenylbutyrate), carnitine, and vitamins specific to the disorder.<br /><br />The metabolic dietitian plays a key interdisciplinary role, requiring specialized education and ongoing training to tailor individualized nutrition plans. GMDI supports professionals with resources, guidelines, and networking.<br /><br />Case studies, including OTC deficiency and phenylketonuria (PKU), reinforced challenges of diagnosis, adherence, and long-term management. Adult and adolescent IEM diagnosis is often delayed due to symptom variability and low awareness, with psychiatric manifestations common in some disorders.<br /><br />In summary, an interdisciplinary, nutrition-focused team approach, early detection via NBS, individualized therapy, and continuous monitoring are pivotal to improving outcomes in metabolic genetic disorders. Education, advocacy, and resource utilization remain essential to address treatment adherence and lifelong management challenges.

Keywords

Metabolic Genetics

Inborn Errors of Metabolism

Nutrition Therapy

Newborn Screening

Urea Cycle Disorders

Metabolic Dietitian

Genetic Metabolic Dietitians International

Emergency Management

Phenylketonuria

Interdisciplinary Care