A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report

BACKGROUND: Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION: Here we report a Chinese neonate diagnosed with suspected PA based...

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Detalles Bibliográficos
Autores principales: Wang, Hai-rong, Liu, Yan-qiu, He, Xue-lian, Sun, Jun, Zeng, Fan-wei, Yan, Cheng-bin, Li, Hao, Gao, Shu-yang, Yang, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441651/
https://www.ncbi.nlm.nih.gov/pubmed/32819290
http://dx.doi.org/10.1186/s12881-020-01102-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441651/
https://www.ncbi.nlm.nih.gov/pubmed/32819290
http://dx.doi.org/10.1186/s12881-020-01102-1

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