Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation

Despite medical therapy, patients with propionic academia (PA) still display a tendency to develop epilepsy. Patients with neonatal-onset PA who have received early living donor liver transplantation (LDLT) are limited in number, and the effect on neurologic prognosis, including epilepsy, is not clear. We report a patient with PA whose EEG findings improved dramatically after undergoing LDLT at age 7 months. The patient's neurologic development and brain MRI findings were quite satisfactory at age 2 years and 3 months. LDLT is effective not only in preventing metabolic decompensation, but also in improving neurologic function to ensure better quality of life.

► An infant with propionic acidemia displayed a tendency to develop epilepsy.
► EEG improved after living donor liver transplantation (LDLT) at age 7 months.
► The neurologic development and brain MRI were also satisfactory after LDLT.
► Early LDLT is effective in improving neurologic function and quality of life.