Prevalence of propionic acidemia in China

Prevalence of propionic acidemia in China

Abstract Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA. Early-onset PA can lead to acute det...

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Bibliographic Details
Main Authors: Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang, You Wang
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Propionic acidemia
PCCA
PCCB
China
Epidemiology
Genotype
Online Access:https://doi.org/10.1186/s13023-023-02898-w

Internet

https://doi.org/10.1186/s13023-023-02898-w

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