%0 Case Reports
%T Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia.
%A Ji G
%A Liu Y
%A Song X
%A Li Z
%A Ji G
%A Liu Y
%A Song X
%A Li Z
%J Front Genet
%V 13
%N 0
%D 2022
%M 35368667
%F 4.772
%R 10.3389/fgene.2022.807822
%X Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed. Results: Two novel mutations were identified in the PCCB gene: M1:c.404_406del:p.G135del and M2:c.632C>T:p.T211I. Conclusion: Late-onset propionic acidemia should be taken into account, and metabolic screening as well as gene analysis should be performed to make a definite diagnosis timely.