Six Chinese patients with propionic acidemia: from asymptomatic to death in the neonatal period

The updated incidence rates of PA in Beijing and Ningxia provide new epidemiological insights. We reported six patients with PA, and identified one novel mutation (c.985T > A) in PCCA and four novel mutations (c.1076 C > T, c.224 A > C, c.1339 C> T, and c.1033G > C) in PCCB, which expands the spectrum of clinical features and genetic mutations associated with PA. The c.985T > A mutation in PCCA and the c.1076 C > T mutation in PCCB may be associated with late-onset PA, while the c.224 A > C, c.1339 C > T, and c.1033G > C mutations in PCCB are related to early-onset PA.