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=13

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=<p><bold>Introduction:</bold> Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare.</p><p><bold>Methods:</bold> Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed.</p><p><bold>Results:</bold> Two novel mutations were identified in the PCCB gene: M1:c.404_406del:p.G135del and M2:c.632C&gt;T:p.T211I.</p><p><bold>Conclusion:</bold> 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.</p>