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

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 period,...

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Detalles Bibliográficos
Autores principales: Li, Yingxuan, Wang, Miaomiao, Huang, Zhaoyang, Ye, Jing, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8925091/
https://www.ncbi.nlm.nih.gov/pubmed/35296328
http://dx.doi.org/10.1186/s12920-022-01202-2

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