Abstract
Propionic acidemia is an autosomal recessively inherited metabolic disorder attributed to a mutation in the PCCA or PCCB gene resulting in a lack of propionyl coenzyme A carboxylase, which permits an abnormal accumulation of propionate and its metabolite precursors in the body. The clinical presentation and severity of propionic acidemia vary widely among patients, and late-onset propionic acidemia might manifest at any stage of life, including infancy, childhood, or even later. In this paper, a case of late-onset propionic acidemia with epilepsy caused by compound heterozygous variations of the PCCB gene was reported. The pathogenic gene, accessory examination, diagnosis, treatment, etc., were investigated, and related written works were reviewed to advance clinicians' understanding of the findings and treatment of the illness.