AUTHOR=Ji Guang , Liu Yaling , Song Xueqin , Li Zhenfei 

TITLE=Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.807822

DOI=10.3389/fgene.2022.807822

ISSN=1664-8021

ABSTRACT=Objectives: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC).Methods: Here we report a patient with PA who was screened by tandem mass spectrometry (MS/MS) and diagnosed by urine gas chromatography mass spectrometry (GC/MS).Results: we used Genetic diagnosis panel to analyze the patient and identified 2 novel mutations in PCCB gene. Disscussion:Screening of organic acid metabolism in blood and urine could be performed so as to avoid misdiagnosis and missed diagnosis.