Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
Guang Ji1, Yaling Liu1, Xueqin Song1
1Department of Neurology, Second Hospital of Hebei Medical University, Shijiazhuang, China.
Frontiers in Genetics
|April 4, 2022
Summary
Late-onset propionic acidemia, a rare metabolic disorder, can be diagnosed with PCCB gene analysis. Early metabolic screening and genetic testing are crucial for timely diagnosis in adult patients.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Propionic acidemia is an autosomal recessive metabolic disorder.
- Adult-onset cases are exceptionally rare, posing diagnostic challenges.
Observation:
- A patient with suspected late-onset propionic acidemia underwent clinical evaluation.
- Metabolic screening and clinical exome sequencing were performed for diagnosis.
Findings:
- Two novel mutations in the PCCB gene were identified: c.404_406del (p.G135del) and c.632C>T (p.T211I).
- These mutations are associated with the late-onset presentation of propionic acidemia.
Implications:
- Late-onset propionic acidemia should be considered in the differential diagnosis of unexplained adult metabolic symptoms.
- Prompt metabolic screening and genetic analysis of the PCCB gene are essential for accurate and timely diagnosis.
