{Reference Type}: Case Reports
{Title}: Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia.
{Author}: Ji G;Liu Y;Song X;Li Z;Ji G;Liu Y;Song X;Li Z;
{Journal}: Front Genet
{Volume}: 13
{Issue}: 0
{Year}: 2022
{Factor}: 4.772
{DOI}: 10.3389/fgene.2022.807822
{Abstract}: 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.