2-year experience of a interdisciplinary IEM group in a tertiary care center in Bogotá, Colombia: an integral view

Background: Inborn errors of metabolism (IEMs) are a complex group of diseases affecting individuals of any age and are a diagnostic challenge given their wide range of signs and symptoms, mainly in pediatric patients. Due to their rarity and complexity, recognition of IEMs is often difficult. The Roosevelt Institute is a referral center for patients with highly complex medical conditions; there, it was deemed a priority to establish a comprehensive care pathway for the management of IEM patients to achieve an early diagnosis and improve patients` quality of life.

Materials and Methods: A retrospective review was conducted on 84 patients who attended a metabolic diseases clinic from January 2021 to March 2023, All patients who attended the clinic and had molecular or biochemical confirmation were included, of which 30 met the inclusion criteria.

Results: The majority of patients (87%) were children of non-consanguineous parents. The most frequently diagnosed IEMs corresponded to defects in metabolism of complex molecules (44%) followed by defects of energy metabolism (33%) and small molecules in 23% of cases. The gap to diagnosis confirmation from onset of symptoms was lower for patients with defects in complex molecules, with an average time of 2 years compared to energy deficits (8 years) . The Zarit scale was applied, finding that caregivers of patients with energy metabolism defects had a higher caregiver burden.

Conclusions: This report presents the most frequently identified IEMs in our metabolic diseases clinic. The creation of specialized teams for the care of patients with metabolic conditions is essential to provide comprehensive care, appropriate clinical follow-up, and optimal disease management. Also, the importance of psychosocial support for affected families is highlighted.