Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia

Abstract

Read online

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.

Keywords

• PCCB gene
• novel mutation
• late onset
• propionic acidemia
• clinical exome sequencing