Novel Compound Heterozygous Variants in PCCB Gene Causing Adult-onset Propionic Acidemia Presenting with Neuropsychiatric Symptoms

We identified a novel compound heterozygous mutation in PCCB gene causing late-onset PA. Patients carrying mutations in PCCB gene tend to develop late-onset PA and present neuropsychiatric symptoms or/and signs. Further molecular biological research is needed to explore the genotype-phenotype correlations of PA.