Clinical characteristics and prognosis of children with methylmalonic acidemia

Abstract Background To analyze the clinical characteristics and prognosis of children with methylmalonic acidemia(MMA), and to improve clinicians' understanding of the disease. Methods A retrospective analysis was performed on the clinical data of children who were hospitalized and diagnosed with methylmalonic acidemia in the First Hospital of Jilin University from March 2015 to March 2021. Results Among the 42 children, 19 were male and 23 were female. The disease is more common in infancy. MMA is characterized by frequent vomiting, disturbance of consciousness, and metabolic acidosis, and the combined MMA The combined type is mostly growth retardation and nervous system damage. Conclusion Neurological damage is the most common in children with methylmalonic acidemia, and most children suffer from Growth retardation. Early diagnosis and treatment is the key to improve the quality of life of children.