| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1998719 | Molecular Genetics and Metabolism | 2013 | 5 Pages |
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.
