Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia

Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications. This report presents the case of a 4-month-old Colombian female with MMA, diagnosed through whole-exome sequencing, which identified compound heterozygous pathogenic variants in the MMUT gene: c.607G>A (p.Gly203Arg) and c.1420C>T (p.Arg474Ter). Despite treatment-including a metabolic diet, L-carnitine, and hydroxocobalamin,-the patient experienced recurrent metabolic crises and ultimately succubed to multi-organ failure. This case underscores critical gaps in Colombia’s healthcare system, including the absence of universal newborn screening, limited access to specialized treatments, and significant administrative barriers that delay interventions. Expanding neonatal screening to include organic acidemias, improving access to essential medications, and establishing reference centers for metabolic diseases are crucial steps to improve outcomes for patients with rare metabolic disorders. This report highlights the urgent need for systemic changes in Colombia to address the inequities in diagnosis and treatment of rare diseases, ensuring timely intervention and comprehensive care for affected patients.