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

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.Case Report: Detection of PA in neonates is possible using Propionyl carnitine (C3)...

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Bibliographische Detailangaben
Hauptverfasser: Yanyun Wang, Yun Sun, Tao Jiang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018-08-01
Schriftenreihe:Frontiers in Pediatrics
Schlagworte:
Propionic academia (PA)
PCCA gene
tandem mass spectrometry (MS/MS)
urine gas chromatography mass spectrometry (GC/MS)
Genetic diagnosis panel
Online Zugang:https://www.frontiersin.org/article/10.3389/fped.2018.00233/full
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