Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy

Abstract

Abstract Background Methylmalonic acidemia (MMA) is an inborn error of metabolism whose optimal management, especially in the long‐term remains to be established. Methods We describe the case of a child with MMA mut0 who was in a cycle of episodes of decompensation and hospitalization when we started to use carglumic acid (CA), a well‐known adjunctive therapy to standard care for the treatment of acute hyperammonemia due to MMA. Results Using the lowest effective therapeutic dose of CA and adjusting the patient's diet with caloric and protein intake adequate for her age and pathology, we managed to keep ammonium levels within the normal range, and to ensure a normal growth pattern. Conclusion The present case adds further confirmation of the long‐term management of MMA using CA, focusing on the long duration of follow up and on the use of a lower dose of CA in real life settings.

Keywords

• Carglumic acid
• Italy
• methylmalonic acidemia
• N‐carbamylglutamate