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

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...

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Bibliographic Details
Main Authors: Yingxuan Li, Miaomiao Wang, Zhaoyang Huang, Jing Ye, Yuping Wang
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-022-01202-2