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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Frontiers Media S.A.,
2018-08-01T00:00:00Z.
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