Dificuldades no diagnostico e manejo da acidemia metilmalônica - relato de caso sugestivo

Introduction: Methylmalonic aciduria (MMA) is an inborn error of metabolism (IEM) of organic acids. We can find two clinical forms, the first, in neonatal period and the other with late onset. Most of cases show up in neonatal period. These patients are seriously injured and most of them have fatal outcome and the symptoms are frequently confused with sepsis, since both of situations present acidosis and acute encephalopathy. Objective: To relate a newborn with a suggested case of MMA who had a fatal outcome due to difficulties and delay in diagnosis and treatment, emphasizing the importance of knowing this disease. Materials and Methods: Descriptive study consisting of case report. Results: KSC, 22 days old, was brought to emergency with past of food intolerance since his birth.. The newborn was malnourished and dehydrated and was admitted to the Neonatal Intensive Care Unity. Sepsis was considered and empirical antibiotic therapy was introduced. A screening for IEM was started and has shown a moderate increase of C3. Metronidazole cycles, supplementation of L-carnitin and large doses of vitamins were done according to the recommended protocol for MMA´s treatment. Because of the difficulty to obtain the recommended milt formula (XMTV analog®), another association was tried and failed. The referred milt formula was introduced at the 87o day placed in hospital, two days before newborn’s death. Final Considerations: We emphasize the need of knowing MMA, because the prognosis is related to the early diagnosis and appropriate treatment. Difficulties to follow diagnosis and treatment protocols contribute to a worse outcome.