分子与遗传医学

Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia

Abstract

Cheng Y, Yu D, Ning g, Qu H, Zhao F and Guo Y

Purpose: Report an infant patient of propionic acidemia with two mutations in the PCCB gene identified by genetic diagnosis.

Method: The patient received gas chromatograph-mass spectrometry and liquid chromatography-tandem mass spectrometry examination, electroencephalogram (EEG), MRI and genetic tests. He was diagnosed as propionic academia.

Results: The boy was admitted in hospital at 8 months of age because of dyspnea, depression, seizures. The EEG was abnormal. MRI showed abnormal signal in bilateral basal ganglia. The gas chromatograph-mass spectrometry and liquid chromatography-tandem mass spectrometry showed glycine, 3-hydroxypropionate, tiglyglycine, methylcitric acid, propionyl carnitine increased. The genetic tests demonstrated that the patient carried the mutations c.337C>T and c.1127 G>T in the PCCB gene. The mutations were inherited from his parents individually.

Conclusion: The patient carried two compound heterozygous mutations in PCCB gene which resulted in propionic academia. The metabolomics screen and brain MRI also played significant roles in the diagnosis of propionic acidemia.