A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel

Frontiers in Pediatrics

Yanyun Wang¹ 

关键词: Propionic academia (PA);    PCCA gene;    tandem mass spectrometry (MS/MS);    urine gas chromatography mass spectrometry (GC/MS);    Genetic diagnosis panel;   

DOI  :  10.3389/fped.2018.00233

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Background: Propionic acidemia (PA) is an extremely rare autosomal recessive disorder which is caused by the deficiency of propionyl-CoA carboxylase (PCC) and associated with pathogenic variants in PCCA or PCCB gene.

【 授权许可】

CC BY