Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

• Auteurs principaux: Yingxuan Li (Auteur), Miaomiao Wang (Auteur), Zhaoyang Huang (Auteur), Jing Ye (Auteur), Yuping Wang (Auteur)
• Format: Livre
• Publié: BMC, 2022-03-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and severity in the neonatal or infant...